Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V539I
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ATM

NM_000051.4:p.V539I

Associated Papers

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Chang HR et al.

American Journal of Human Genetics, 2019

Genetic and epigenetic aberrations occurring in colorectal tumors associated with serrated pathway.

Sakai E et al.

International Journal of Cancer, 2016

26510091 (PubMed )
Supplement: IJC-138-1634-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."