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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DTNA

Variant:p.L175_L177delFs

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DTNA

NM_001386795.1:p.L175_L177delFs

hg38:chr18:34812032 TCTCAAAC>T

Associated Papers

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Nascimento A et al.

Acta Neuropathologica, 2023

36799992 (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."