Varaico: Literature-Extracted Genetic Variants

Gene:RBBP5
Variant:p.S497C
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RBBP5

NM_005057.4:p.S497C

Associated Papers

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Huang Y et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

39036895 (PubMed )
Supplement: NIHMS2034659-supplement-GIM_Huang_RBBP5_Suppl.pdf
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