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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOR1A

Variant:p.D295_I296insFs

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TOR1A

NM_000113.3:p.D295_I296insFs

hg38:chr9:129814086 G>GA

Associated Papers

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Tezenas du Montcel S et al.

Journal of Medical Genetics, 2006

16227522 (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."