Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L1614_K1615insFs
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ATM

NM_000051.4:p.L1614_K1615insFs

Associated Papers

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.

Richardson ME et al.

American Journal of Human Genetics, 2024

39317201 (PubMed )
Supplement: mmc6.pdf

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M et al.

Disease Markers, 2006

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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."