Varaico: Literature-Extracted Genetic Variants

Gene:NALCN
Variant:p.L312V
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NALCN

NM_052867.4:p.L312V

Associated Papers

Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant.

Liao Z et al.

Frontiers in Pediatrics, 2022

35911839 (PubMed )
Supplement: Table_1.XLSX › Sheet1

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

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Bend EG et al.

Neurology, 2016

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.

Fukai R et al.

Journal of Human Genetics, 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."