Varaico: Literature-Extracted Genetic Variants

Gene:NALCN
Variant:p.F317C
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NALCN

NM_052867.4:p.F317C

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

Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.

Karakaya M et al.

Neuropediatrics, 2016

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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."