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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DMBT1

Variant:p.P1054R

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DMBT1

NM_001377530.1:p.P1054R

hg38:chr10:122598978 C>G

Associated Papers

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Soukupova J et al.

Neuromolecular Medicine, 2011

21833744 (PubMed )

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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."