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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN8

Variant:p.A13V

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CAPN8

NM_001143962.2:p.A13V

hg38:chr1:223665609 G>A

Associated Papers

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment.

Schrauwen I et al.

Genes, 2020

32585897 (PubMed )

Supplement: genes-11-00687-s001.zip › Table_S1.xlsx › Suppl_Table_1

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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."