FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1596467124> ?p ?o ?g. }

• W1596467124 endingPage "62" @default.
• W1596467124 startingPage "46" @default.
• W1596467124 abstract "Neurofibromatosis type 1 (NF1, MIM 162200) is a complex disorder that affects many cell types and involves multiple body systems. This inherited disorder is due to germline mutations of the NF1 gene; this 17q11.2-located gene spans 280 kb of genomic DNA, and has 61 exons, of which 4 are alternatively spliced, that code for an ˜9-kb open reading frame. A large 60-kb intron of the NF1 gene contains three unrelated genes, EVI2A, EVI2B and OMG, that are transcribed from the opposite strand. A number of highly homologous NF1 pseudogene-like sequences are present on several chromosomes. Neurofibromin, the NF1 gene product, is a large (2818 amino acids) ubiquitously expressed protein that is present at low concentration in most tissues, with brain showing the highest protein concentrations. Neurofibromin is a recognised tumour suppressor gene relating to its main functional role in inactivating cellular Ras protein, although several additional roles for the protein are now recognised. Establishing a close correlation between specific disease gene mutations and an associated clinical phenotype in affected patients can be a challenging task in molecular clinical genetics. For NF1, only two such genotype-phenotype correlations have been reported for the NF1 gene: the first relates to patients with large germline gene deletions who often present with large numbers of neurofibromas for their age, dysmorphic features and learning disabilities, and may have a higher risk of developing malignancy; the second association involves a small number of NF1 patients whose germline NF1 mutation is a specific 3-bp deletion in exon 17 of the gene and who show a complete absence of neurofibromas, including dermal, subcutaneous and superficial plexiform neurofibromas, and often present with a milder form of the disease, with a significant reduction of many NF1 features." @default.
• W1596467124 created "2016-06-24" @default.
• W1596467124 creator A5042325315 @default.
• W1596467124 date "2008-01-01" @default.
• W1596467124 modified "2023-10-14" @default.
• W1596467124 title "NF1 Gene Structure and NF1 Genotype/Phenotype Correlations" @default.
• W1596467124 cites W1480579132 @default.
• W1596467124 cites W1494553971 @default.
• W1596467124 cites W1526966306 @default.
• W1596467124 cites W1559883839 @default.
• W1596467124 cites W1567873511 @default.
• W1596467124 cites W1841345864 @default.
• W1596467124 cites W1881020850 @default.
• W1596467124 cites W1930700863 @default.
• W1596467124 cites W1966980518 @default.
• W1596467124 cites W1973573177 @default.
• W1596467124 cites W1974820282 @default.
• W1596467124 cites W1977197767 @default.
• W1596467124 cites W1979291797 @default.
• W1596467124 cites W1980784955 @default.
• W1596467124 cites W1985425184 @default.
• W1596467124 cites W1989981053 @default.
• W1596467124 cites W1991488627 @default.
• W1596467124 cites W1994115179 @default.
• W1596467124 cites W1997887695 @default.
• W1596467124 cites W2000570698 @default.
• W1596467124 cites W2001164037 @default.
• W1596467124 cites W2006211674 @default.
• W1596467124 cites W2007789874 @default.
• W1596467124 cites W2010926229 @default.
• W1596467124 cites W2015942439 @default.
• W1596467124 cites W2016791167 @default.
• W1596467124 cites W2020231002 @default.
• W1596467124 cites W2020752804 @default.
• W1596467124 cites W2022237108 @default.
• W1596467124 cites W2028554823 @default.
• W1596467124 cites W2038673247 @default.
• W1596467124 cites W2044976670 @default.
• W1596467124 cites W2047358686 @default.
• W1596467124 cites W2048070965 @default.
• W1596467124 cites W2048283469 @default.
• W1596467124 cites W2054674800 @default.
• W1596467124 cites W2059986841 @default.
• W1596467124 cites W2062855689 @default.
• W1596467124 cites W2064523064 @default.
• W1596467124 cites W2066219633 @default.
• W1596467124 cites W2066659486 @default.
• W1596467124 cites W2070287558 @default.
• W1596467124 cites W2071893342 @default.
• W1596467124 cites W2072163115 @default.
• W1596467124 cites W2073798483 @default.
• W1596467124 cites W2078792788 @default.
• W1596467124 cites W2082630330 @default.
• W1596467124 cites W2083529063 @default.
• W1596467124 cites W2087066678 @default.
• W1596467124 cites W2091232919 @default.
• W1596467124 cites W2093423802 @default.
• W1596467124 cites W2106041989 @default.
• W1596467124 cites W2111227250 @default.
• W1596467124 cites W2116288639 @default.
• W1596467124 cites W2131532433 @default.
• W1596467124 cites W2133481656 @default.
• W1596467124 cites W2137464415 @default.
• W1596467124 cites W2137908022 @default.
• W1596467124 cites W2139260705 @default.
• W1596467124 cites W2142366643 @default.
• W1596467124 cites W2145799335 @default.
• W1596467124 cites W2149231144 @default.
• W1596467124 cites W2149321876 @default.
• W1596467124 cites W2159096148 @default.
• W1596467124 cites W2162662013 @default.
• W1596467124 cites W2163393726 @default.
• W1596467124 cites W2170029524 @default.
• W1596467124 cites W2171204021 @default.
• W1596467124 cites W2227926799 @default.
• W1596467124 cites W2516022896 @default.
• W1596467124 cites W2992563124 @default.
• W1596467124 doi "https://doi.org/10.1159/000126543" @default.
• W1596467124 hasPublicationYear "2008" @default.
• W1596467124 type Work @default.
• W1596467124 sameAs 1596467124 @default.
• W1596467124 citedByCount "13" @default.
• W1596467124 countsByYear W15964671242012 @default.
• W1596467124 countsByYear W15964671242014 @default.
• W1596467124 countsByYear W15964671242019 @default.
• W1596467124 countsByYear W15964671242021 @default.
• W1596467124 countsByYear W15964671242023 @default.
• W1596467124 crossrefType "book-chapter" @default.
• W1596467124 hasAuthorship W1596467124A5042325315 @default.
• W1596467124 hasConcept C104317684 @default.
• W1596467124 hasConcept C127716648 @default.
• W1596467124 hasConcept C135763542 @default.
• W1596467124 hasConcept C54355233 @default.
• W1596467124 hasConcept C86803240 @default.
• W1596467124 hasConceptScore W1596467124C104317684 @default.
• W1596467124 hasConceptScore W1596467124C127716648 @default.
• W1596467124 hasConceptScore W1596467124C135763542 @default.
• W1596467124 hasConceptScore W1596467124C54355233 @default.

• next