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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPATA2L

Variant:p.E41delFs

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SPATA2L

NM_152339.4:p.E41delFs

hg38:chr16:89701110 CT>C

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

36509868 (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."