Varaico: Literature-Extracted Genetic Variants

Gene:ABCA6
Variant:p.C1216G
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ABCA6

NM_080284.3:p.C1216G

Associated Papers

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

de Voer RM et al.

Plos Genetics, 2016

26901136 (PubMed )
Supplement: pgen.1005880.s003.xlsx › S3_Table

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1164.429
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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."