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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSA

Variant:p.R231Splc

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CTSA

NM_000308.4:p.R231Splc

hg38:chr20:45893366 A>G

Associated Papers

Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity.

Toki M et al.

Human Genome Variation, 2025

41006206 (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."