Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E2479K
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ATM

NM_000051.4:p.E2479K

Associated Papers

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.

Holla VV et al.

Journal of Movement Disorders, 2022

35287262 (PubMed )
Supplement: jmd-21146-suppl3.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."