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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASPA

Variant:p.F51S

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ASPA

NM_000049.4:p.F51S

hg38:chr17:3476311 T>C

Associated Papers

Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.

Weiß M et al.

Human Gene Therapy, 2025

40257001 (PubMed )

Supplement: NIHMS2119170-supplement-Supplemental_table_2.pdf

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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."