Varaico: Literature-Extracted Genetic Variants

Gene:GALNT12
Variant:p.R297W
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GALNT12

NM_024642.5:p.R297W

Associated Papers

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.

Evans DR et al.

Human Mutation, 2018

Familial Colorectal Cancer Type X.

Zetner DB et al.

Current Genomics, 2017

Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.

Hussain MRM et al.

Journal of Cellular Biochemistry, 2014

Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.

Guda K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

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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."