Varaico: Literature-Extracted Genetic Variants

Gene:PON3
Variant:p.V166M
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PON3

NM_000940.3:p.V166M

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
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