Varaico: Literature-Extracted Genetic Variants

Gene:NALCN
Variant:p.D600E
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NALCN

NM_052867.4:p.D600E

Associated Papers

Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.

Bouasse M et al.

Scientific Reports, 2019

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

Angius A et al.

Clinical Genetics, 2019

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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."