Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P1069fs
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ATM

NM_000051.4:p.P1069fs

Associated Papers

Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the ATM Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System Lymphoma.

Dörr JR et al.

Children (basel, Switzerland), 2021

Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia.

Bakhtiar S et al.

Frontiers in Immunology, 2018

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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."