Varaico: Literature-Extracted Genetic Variants

Gene:CRYBG2
Variant:p.P538fs
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CRYBG2

NM_001039775.4:p.P538fs

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

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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