Varaico: Literature-Extracted Genetic Variants

Gene:NALCN
Variant:p.Q1186*
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NALCN

NM_052867.4:p.Q1186*

Associated Papers

Structure of the human sodium leak channel NALCN in complex with FAM155A.

Xie J et al.

Nature Communications, 2020

33203861 (PubMed )
Supplement: 41467_2020_19667_MOESM1_ESM.pdf

A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.

Karimi AH et al.

The Application of Clinical Genetics, 2020

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC et al.

Human Genetics, 2018

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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."