Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.R329W
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SETD2

NM_014159.7:p.R329W

Associated Papers

SETD2 Haploinsufficiency Enhances Germinal Center-Associated AICDA Somatic Hypermutation to Drive B-cell Lymphomagenesis.

Leung W et al.

Cancer Discovery, 2022

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Au KS et al.

Scientific Reports, 2021

33574475 (PubMed )
Supplement: 41598_2021_83058_MOESM1_ESM.xlsx › Supplementary_Table_3
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