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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPAST

Variant:p.H455R

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SPAST

NM_014946.4:p.H455R

hg38:chr2:32136919 A>G

Associated Papers

Spastin mutations impair coordination between lipid droplet dispersion and reticulum.

Arribat Y et al.

Plos Genetics, 2020

32315314 (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."