FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079837570> ?p ?o ?g. }

• W2079837570 endingPage "300" @default.
• W2079837570 startingPage "295" @default.
• W2079837570 abstract "Fanconi anemia is a rare genetic disease characterized by bone marrow failure, multiple congenital malformations, and an increased susceptibility to malignancy. At least 15 genes have been identified that are involved in the pathogenesis of Fanconi anemia. However, it is still a challenge to assign the complementation group and to characterize the molecular defects in patients with Fanconi anemia. In the current study, whole exome sequencing was used to identify the affected gene(s) in a boy with Fanconi anemia. A recurring, non-synonymous mutation was found (c.3971C>T, p.P1324L) as well as a novel frameshift mutation (c.989_995del, p.H330LfsX2) in FANCA gene. Our results indicate that whole exome sequencing may be useful in clinical settings for rapid identification of disease-causing mutations in rare genetic disorders such as Fanconi anemia." @default.
• W2079837570 created "2016-06-24" @default.
• W2079837570 creator A5000550895 @default.
• W2079837570 creator A5025956941 @default.
• W2079837570 creator A5032263938 @default.
• W2079837570 creator A5033594944 @default.
• W2079837570 creator A5040012191 @default.
• W2079837570 creator A5041334569 @default.
• W2079837570 creator A5083277250 @default.
• W2079837570 creator A5086359066 @default.
• W2079837570 creator A5089387352 @default.
• W2079837570 date "2013-11-01" @default.
• W2079837570 modified "2023-10-17" @default.
• W2079837570 title "Molecular defects identified by whole exome sequencing in a child with Fanconi anemia" @default.
• W2079837570 cites W146234131 @default.
• W2079837570 cites W1966045237 @default.
• W2079837570 cites W1984068087 @default.
• W2079837570 cites W2003696506 @default.
• W2079837570 cites W2009551211 @default.
• W2079837570 cites W2024073282 @default.
• W2079837570 cites W2029472708 @default.
• W2079837570 cites W2034668175 @default.
• W2079837570 cites W2036716410 @default.
• W2079837570 cites W2038560626 @default.
• W2079837570 cites W2043051674 @default.
• W2079837570 cites W2061596350 @default.
• W2079837570 cites W2063093831 @default.
• W2079837570 cites W2072397420 @default.
• W2079837570 cites W2073843957 @default.
• W2079837570 cites W2075827731 @default.
• W2079837570 cites W2119180969 @default.
• W2079837570 cites W2123950266 @default.
• W2079837570 cites W2128869307 @default.
• W2079837570 cites W2151206132 @default.
• W2079837570 cites W2153025234 @default.
• W2079837570 cites W2153384396 @default.
• W2079837570 cites W2161815151 @default.
• W2079837570 cites W2165972113 @default.
• W2079837570 cites W2168133698 @default.
• W2079837570 cites W2171183678 @default.
• W2079837570 cites W4247053599 @default.
• W2079837570 doi "https://doi.org/10.1016/j.gene.2013.08.031" @default.
• W2079837570 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23973728" @default.
• W2079837570 hasPublicationYear "2013" @default.
• W2079837570 type Work @default.
• W2079837570 sameAs 2079837570 @default.
• W2079837570 citedByCount "16" @default.
• W2079837570 countsByYear W20798375702013 @default.
• W2079837570 countsByYear W20798375702014 @default.
• W2079837570 countsByYear W20798375702015 @default.
• W2079837570 countsByYear W20798375702016 @default.
• W2079837570 countsByYear W20798375702018 @default.
• W2079837570 countsByYear W20798375702020 @default.
• W2079837570 countsByYear W20798375702021 @default.
• W2079837570 crossrefType "journal-article" @default.
• W2079837570 hasAuthorship W2079837570A5000550895 @default.
• W2079837570 hasAuthorship W2079837570A5025956941 @default.
• W2079837570 hasAuthorship W2079837570A5032263938 @default.
• W2079837570 hasAuthorship W2079837570A5033594944 @default.
• W2079837570 hasAuthorship W2079837570A5040012191 @default.
• W2079837570 hasAuthorship W2079837570A5041334569 @default.
• W2079837570 hasAuthorship W2079837570A5083277250 @default.
• W2079837570 hasAuthorship W2079837570A5086359066 @default.
• W2079837570 hasAuthorship W2079837570A5089387352 @default.
• W2079837570 hasConcept C104317684 @default.
• W2079837570 hasConcept C10590036 @default.
• W2079837570 hasConcept C109159458 @default.
• W2079837570 hasConcept C114538912 @default.
• W2079837570 hasConcept C126322002 @default.
• W2079837570 hasConcept C134935766 @default.
• W2079837570 hasConcept C16671776 @default.
• W2079837570 hasConcept C2777408962 @default.
• W2079837570 hasConcept C2778124228 @default.
• W2079837570 hasConcept C2778248108 @default.
• W2079837570 hasConcept C2778993383 @default.
• W2079837570 hasConcept C2780525284 @default.
• W2079837570 hasConcept C28328180 @default.
• W2079837570 hasConcept C29906990 @default.
• W2079837570 hasConcept C501734568 @default.
• W2079837570 hasConcept C502942594 @default.
• W2079837570 hasConcept C54355233 @default.
• W2079837570 hasConcept C71924100 @default.
• W2079837570 hasConcept C86803240 @default.
• W2079837570 hasConceptScore W2079837570C104317684 @default.
• W2079837570 hasConceptScore W2079837570C10590036 @default.
• W2079837570 hasConceptScore W2079837570C109159458 @default.
• W2079837570 hasConceptScore W2079837570C114538912 @default.
• W2079837570 hasConceptScore W2079837570C126322002 @default.
• W2079837570 hasConceptScore W2079837570C134935766 @default.
• W2079837570 hasConceptScore W2079837570C16671776 @default.
• W2079837570 hasConceptScore W2079837570C2777408962 @default.
• W2079837570 hasConceptScore W2079837570C2778124228 @default.
• W2079837570 hasConceptScore W2079837570C2778248108 @default.
• W2079837570 hasConceptScore W2079837570C2778993383 @default.
• W2079837570 hasConceptScore W2079837570C2780525284 @default.
• W2079837570 hasConceptScore W2079837570C28328180 @default.
• W2079837570 hasConceptScore W2079837570C29906990 @default.
• W2079837570 hasConceptScore W2079837570C501734568 @default.

• next