Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.M176I
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CLCNKB

NM_000085.5:p.M176I

Associated Papers

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Marcogliese PC et al.

Cell Reports, 2022

35294868 (PubMed )
Supplement: NIHMS1789669-supplement-4.xlsx › S3

Congenital long QT syndrome aggravated by salt-wasting nephropathy.

Darbar D et al.

Heart Rhythm, 2005

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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."