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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATM

Variant:p.V2862_R2871del0

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ATM

NM_000051.4:p.V2862_R2871del0

hg38:chr11:108347278 GTTGGTTACATACTTGGACTTGGTGATA>G

Associated Papers

Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.

Mutlu-Albayrak H et al.

Neurogenetics, 2020

31741144 (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."