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
KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption.
Assiry AA et al.
Scientific Reports, 2019
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