Varaico: Literature-Extracted Genetic Variants

Gene:SCN7A
Variant:p.R1622Q
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SCN7A

NM_002976.4:p.R1622Q

Associated Papers

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Gogate A et al.

Npj Genomic Medicine, 2024

39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.

Almomani R et al.

International Journal of Molecular Sciences, 2023

37175987 (PubMed )
Supplement: ijms-24-08278-s001.zip › ijms-2239683-supplementary.pdf

Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.

Modena M et al.

Molecular Genetics & Genomic Medicine, 2020

From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Perera-Bel J et al.

Genome Medicine, 2018

29544535 (PubMed )
Supplement: 13073_2018_529_MOESM2_ESM.xlsx › MASTER-08
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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."