Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.E141G
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AMACR

NM_014324.6:p.E141G

Associated Papers

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Chen HJ et al.

Human Mutation, 2017

28677221 (PubMed )
Supplement: HUMU-38-1372-s001.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."