Varaico: Literature-Extracted Genetic Variants

Gene:MUC20
Variant:p.V654M
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MUC20

NM_001282506.2:p.V654M

Associated Papers

Whole-Genome Landscape of Retinal Hemangioblastomas.

Bals K et al.

Translational Vision Science & Technology, 2026

41533848 (PubMed )
Supplement: tvst-15-1-5_s003.xlsx › Supplementary_Table_2

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Zeltner N et al.

Nature Medicine, 2016

27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants
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