Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L243L
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ATM

NM_000051.4:p.L243L

Associated Papers

Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 - case report and review of the literature.

Bajek A et al.

Frontiers in Neurology, 2023

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

Le Calvez-Kelm F et al.

Breast Cancer Research : Bcr, 2011

21244692 (PubMed )
Supplement: bcr2810-S1.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."