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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN8

Variant:p.A555T

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CAPN8

NM_001143962.2:p.A555T

hg38:chr1:223550996 C>T

Associated Papers

PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism.

Ludwig-Peisker O et al.

Genes, 2022

36553621 (PubMed )

Supplement: genes-13-02354-s001.zip › TableS4_Private_Variants.xlsx › private_homozygous_variants

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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."