Varaico: Literature-Extracted Genetic Variants

Gene:RBM48
Variant:p.R284H
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RBM48

NM_032120.4:p.R284H

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

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Musolf AM et al.

Communications Biology, 2023

36596879 (PubMed )
Supplement: 42003_2022_4323_MOESM7_ESM.xlsx › SData33
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