Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.D140N
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ATM

NM_000051.4:p.D140N

Associated Papers

Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Staninova-Stojovska M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

31942411 (PubMed )
Supplement: bjmg-22-005_sm.pdf

Pharmaceutical therapies to recode nonsense mutations in inherited diseases.

Lee HL et al.

Pharmacology & Therapeutics, 2012

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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."