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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHX57

Variant:p.E246K

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DHX57

NM_198963.3:p.E246K

hg38:chr2:38861674 C>T

Associated Papers

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.

Aslam F et al.

Scientific Reports, 2026

41606223 (PubMed )

Supplement: 41598_2026_37808_MOESM2_ESM.xlsx › Sheet1

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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."