Publications:

The 3D mutational constraint on amino acid sites in the human proteome.

Nature Communications

Li, Bian B; Roden, Dan M DM; Capra, John A JA

Publication Date: 2022-06-07

Variant appearance in text: SCN5A: W879R

PubMed Link: 35672414

Variant Present in the following documents:

• 41467_2022_30936_MOESM2_ESM.pdf
• 41467_2022_30936_MOESM1_ESM.pdf

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN5A: W879R

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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High-Throughput Reclassification of SCN5A Variants.

American Journal Of Human Genetics

Glazer, Andrew M AM; Wada, Yuko Y; Li, Bian B; Muhammad, Ayesha A; Kalash, Olivia R OR; O'Neill, Matthew J MJ; Shields, Tiffany T; Hall, Lynn L; Short, Laura L; Blair, Marcia A MA; Kroncke, Brett M BM; Capra, John A JA; Roden, Dan M DM

Publication Date: 2020-07-02

Variant appearance in text: SCN5A: Trp879Arg

PubMed Link: 32533946

Variant Present in the following documents:

• Main text

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