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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DMPK

Variant:p.M99_I101delFs

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DMPK

NM_004409.5:p.M99_I101delFs

hg38:chr19:45779472 GATCTTCA>G

Associated Papers

A framework for the evaluation of patients with congenital facial weakness.

Webb BD et al.

Orphanet Journal of Rare Diseases, 2021

33827624 (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."