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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN5

Variant:p.E35E

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CLCN5

NM_000084.5:p.E35E

hg38:chrX:50070030 G>A

Associated Papers

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.

Durán M et al.

Human Molecular Genetics, 2021

33987651 (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."