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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNAJC7

Variant:p.P241S

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DNAJC7

NM_003315.4:p.P241S

hg38:chr17:41989436 G>A

Associated Papers

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.

Lieto M et al.

European Journal of Neurology, 2020

31571321 (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."