Varaico: Literature-Extracted Genetic Variants

Gene:STXBP5L
Variant:p.G12D
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STXBP5L

NM_001308330.2:p.G12D

Associated Papers

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Palles C et al.

Nature Genetics, 2013

23263490 (PubMed )
Supplement: NIHMS53122-supplement-1.pdf
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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."