Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2427H
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ATM

NM_000051.4:p.L2427H

Associated Papers

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

Lim JS et al.

Nature Medicine, 2015

Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Brannon AR et al.

Genome Biology, 2014

25164765 (PubMed )
Supplement: 13059_2014_454_MOESM1_ESM.xlsx › Sheet1
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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."