Varaico: Literature-Extracted Genetic Variants

Gene:SYT14
Variant:p.P203L
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SYT14

NM_001146261.4:p.P203L

Associated Papers

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

Doi H et al.

American Journal of Human Genetics, 2011

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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."