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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS16

Variant:p.A48fs

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VPS16

NM_022575.4:p.A48fs

hg38:chr20:2860054 CA>N

Associated Papers

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.

Santos M et al.

Neurogenetics, 2023

37226038 (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."