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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDK13

Variant:p.R118_R119delFs

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CDK13

NM_003718.5:p.R118_R119delFs

hg38:chr7:39950993 CGTCG>C

Associated Papers

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

Vithana EN et al.

Nature Genetics, 2006

16767101 (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."