Varaico: Literature-Extracted Genetic Variants

Gene:SETD6
Variant:p.A264insFs
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SETD6

NM_001160305.4:p.A264insFs

Associated Papers

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Hets

SETD6 dominant negative mutation in familial colorectal cancer type X.

Martín-Morales L et al.

Human Molecular Genetics, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 341.162
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."