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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN7

Variant:p.R767L

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CLCN7

NM_001287.6:p.R767L

hg38:chr16:1447037 C>A

Associated Papers

Undiagnosed disease program in South Africa: Results from first 100 exomes.

Moosa S et al.

American Journal of Medical Genetics. Part A, 2022

35616356 (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."