Varaico: Literature-Extracted Genetic Variants

Gene:SPART
Variant:p.K370fs
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SPART

NM_015087.5:p.K370fs

Associated Papers

Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review.

Liang H et al.

Annals of the New York Academy of Sciences, 2020

Three cases of Troyer syndrome in two families of Filipino descent.

Butler S et al.

American Journal of Medical Genetics. Part A, 2016

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

Oz-Levi D et al.

American Journal of Human Genetics, 2012

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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."