Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.H1082delFs
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ATM

NM_000051.4:p.H1082delFs

Associated Papers

The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.

Stray-Pedersen A et al.

Clinical and Experimental Immunology, 2004

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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."