FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2972874959> ?p ?o ?g. }

• W2972874959 endingPage "113" @default.
• W2972874959 startingPage "107" @default.
• W2972874959 abstract "Abstract Mutations in the GJB2 gene are a main cause of autosomal‐recessive nonsyndromic hearing loss (ARNSHL) in many populations. Previous studies have estimated the average frequency of GJB2 mutations to be ∼16% in Iran, but would vary among different ethnic groups. Here, we have taken together and reviewed results from our two previous publications and data from searching other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in central Iran. In all, 332 unrelated families were included and analyzed for the prevalence and type of the GJB2 gene mutations. In total, the frequency of GJB2 mutations was found to be 16% in the central provinces, which is significantly higher than those identified in southern populations of Iran. Also, c.35delG was the most frequent mutation in the related population. The present study suggests that mutations in the GJB2 gene, especially c.35delG, are important causes of HL in central Iran and can be used as a basis of genetic counseling and clinical guidelines in this region." @default.
• W2972874959 created "2019-09-19" @default.
• W2972874959 creator A5018497658 @default.
• W2972874959 creator A5042117452 @default.
• W2972874959 creator A5087417500 @default.
• W2972874959 date "2019-09-11" @default.
• W2972874959 modified "2023-09-23" @default.
• W2972874959 title "<i>GJB2</i> ‐related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations" @default.
• W2972874959 cites W1451957032 @default.
• W2972874959 cites W151092247 @default.
• W2972874959 cites W1928998814 @default.
• W2972874959 cites W1935916792 @default.
• W2972874959 cites W1966579539 @default.
• W2972874959 cites W1967662492 @default.
• W2972874959 cites W1967667989 @default.
• W2972874959 cites W1979734315 @default.
• W2972874959 cites W1981655396 @default.
• W2972874959 cites W1983052816 @default.
• W2972874959 cites W1984532833 @default.
• W2972874959 cites W1984963327 @default.
• W2972874959 cites W1987054274 @default.
• W2972874959 cites W1997815519 @default.
• W2972874959 cites W1999214207 @default.
• W2972874959 cites W2002903531 @default.
• W2972874959 cites W2004358642 @default.
• W2972874959 cites W2009581629 @default.
• W2972874959 cites W2011206896 @default.
• W2972874959 cites W2014469165 @default.
• W2972874959 cites W2016143291 @default.
• W2972874959 cites W2043730073 @default.
• W2972874959 cites W2046460270 @default.
• W2972874959 cites W2046729627 @default.
• W2972874959 cites W2060433316 @default.
• W2972874959 cites W2061361740 @default.
• W2972874959 cites W2065530813 @default.
• W2972874959 cites W2078032712 @default.
• W2972874959 cites W2081695929 @default.
• W2972874959 cites W2085924667 @default.
• W2972874959 cites W2088296560 @default.
• W2972874959 cites W2092890929 @default.
• W2972874959 cites W2109539047 @default.
• W2972874959 cites W2114236462 @default.
• W2972874959 cites W2114929889 @default.
• W2972874959 cites W2131514063 @default.
• W2972874959 cites W2145000560 @default.
• W2972874959 cites W2152134243 @default.
• W2972874959 cites W2166428859 @default.
• W2972874959 cites W2176038343 @default.
• W2972874959 cites W2382749860 @default.
• W2972874959 cites W2554592994 @default.
• W2972874959 cites W2604703155 @default.
• W2972874959 cites W2737415332 @default.
• W2972874959 cites W2790715874 @default.
• W2972874959 cites W2891540843 @default.
• W2972874959 cites W2905566067 @default.
• W2972874959 cites W2912932187 @default.
• W2972874959 cites W2925844361 @default.
• W2972874959 cites W2948966351 @default.
• W2972874959 cites W2950104288 @default.
• W2972874959 cites W2951578601 @default.
• W2972874959 cites W642162889 @default.
• W2972874959 doi "https://doi.org/10.1111/ahg.12354" @default.
• W2972874959 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31512227" @default.
• W2972874959 hasPublicationYear "2019" @default.
• W2972874959 type Work @default.
• W2972874959 sameAs 2972874959 @default.
• W2972874959 citedByCount "12" @default.
• W2972874959 countsByYear W29728749592020 @default.
• W2972874959 countsByYear W29728749592021 @default.
• W2972874959 countsByYear W29728749592022 @default.
• W2972874959 countsByYear W29728749592023 @default.
• W2972874959 crossrefType "journal-article" @default.
• W2972874959 hasAuthorship W2972874959A5018497658 @default.
• W2972874959 hasAuthorship W2972874959A5042117452 @default.
• W2972874959 hasAuthorship W2972874959A5087417500 @default.
• W2972874959 hasBestOaLocation W29728749591 @default.
• W2972874959 hasConcept C102306862 @default.
• W2972874959 hasConcept C104317684 @default.
• W2972874959 hasConcept C2780493683 @default.
• W2972874959 hasConcept C2908647359 @default.
• W2972874959 hasConcept C501734568 @default.
• W2972874959 hasConcept C54355233 @default.
• W2972874959 hasConcept C548259974 @default.
• W2972874959 hasConcept C71924100 @default.
• W2972874959 hasConcept C80227256 @default.
• W2972874959 hasConcept C86803240 @default.
• W2972874959 hasConcept C99454951 @default.
• W2972874959 hasConceptScore W2972874959C102306862 @default.
• W2972874959 hasConceptScore W2972874959C104317684 @default.
• W2972874959 hasConceptScore W2972874959C2780493683 @default.
• W2972874959 hasConceptScore W2972874959C2908647359 @default.
• W2972874959 hasConceptScore W2972874959C501734568 @default.
• W2972874959 hasConceptScore W2972874959C54355233 @default.
• W2972874959 hasConceptScore W2972874959C548259974 @default.
• W2972874959 hasConceptScore W2972874959C71924100 @default.
• W2972874959 hasConceptScore W2972874959C80227256 @default.
• W2972874959 hasConceptScore W2972874959C86803240 @default.
• W2972874959 hasConceptScore W2972874959C99454951 @default.

• next