Varaico: Literature-Extracted Genetic Variants

Gene:GALNT12
Variant:p.H101Q
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GALNT12

NM_024642.5:p.H101Q

Associated Papers

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Djursby M et al.

Frontiers in Genetics, 2020

The structure of the colorectal cancer-associated enzyme GalNAc-T12 reveals how nonconserved residues dictate its function.

Fernandez AJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

31548401 (PubMed )
Supplement: pnas.1902211116.sapp.pdf

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

Evans DR et al.

Human Mutation, 2018

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