Varaico: Literature-Extracted Genetic Variants

Gene:NALCN
Variant:p.C675fs
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NALCN

NM_052867.4:p.C675fs

Associated Papers

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

Periodic breathing in patients with NALCN mutations.

Bourque DK et al.

Journal of Human Genetics, 2018

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

Takenouchi T et al.

American Journal of Medical Genetics. Part A, 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."