Sentences with phrase «for nonsyndromic»
12:00 - 12:15 pm: Identification of non-coding variants at 1p22 that are pathogenic for nonsyndromic orofacial clefting R. Cornell, University of Iowa, et al
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Manou Sommen and colleagues report a study of a targeted resequencing panel for hearing loss was developed including 79 genes for nonsyndromic hearing loss (NSH) L and selected forms of syndromic hearing loss.They established a straightforward variant classification system to deal with the large number of variants encountered and showed that after GJB2, the most commonly mutated genes in a Western - European population are TMC1, MYO15A, and MYO7A.
Not exact matches
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing