Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF3
Variant:p.R336C
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RAPGEF3

NM_001098531.4:p.R336C

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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