Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.R767C
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SETD5

NM_001080517.3:p.R767C

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

Pinard A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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