Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.F1705I
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SCN1A

NM_001165963.4:p.F1705I

Associated Papers

Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.

Akbari Ahangar A et al.

Iscience, 2024

39286500 (PubMed )
Supplement: mmc1.pdf

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?

Biswas S et al.

Plos One, 2013

Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.

Groome JR et al.

Channels (austin, Tex.), 0

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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."