Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.R769delFs
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SETD5

NM_001080517.3:p.R769delFs

Associated Papers

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.

Callahan NC et al.

Clinical Genetics, 2025

Clinical variants paired with phenotype: A rich resource for brain gene curation.

Chopra M et al.

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

38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
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