Varaico: Literature-Extracted Genetic Variants

Gene:UBE3D
Variant:p.V348I
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UBE3D

NM_198920.3:p.V348I

Associated Papers

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.

Hirsch Y et al.

International Journal of Molecular Sciences, 2023

37240244 (PubMed )
Supplement: ijms-24-08897-s001.zip › SuppTable1.xlsx › Homozygous
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