Associated Papers
Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
Albarry MA et al.
Plos One, 2021
33571247 (PubMed )
Supplement: pone.0246607.s001.xlsx › Sheet1
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
Wang J et al.
Genome Medicine, 2015
26338694 (PubMed )
Supplement: 13073_2015_207_MOESM1_ESM.xlsx › S6
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