Varaico: Literature-Extracted Genetic Variants

Gene:SPATA33
Variant:p.A5T
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SPATA33

NM_153025.3:p.A5T

Associated Papers

A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.

Sakamoto M et al.

Journal of Human Genetics, 2023

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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."