Varaico: Literature-Extracted Genetic Variants

Gene:RIMBP3C
Variant:p.C968R
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RIMBP3C

NM_001128633.2:p.C968R

Associated Papers

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.

Ibrahim N et al.

Genes, 2023

36980979 (PubMed )
Supplement: genes-14-00707-s001.zip › Table_S1.pdf
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