Publications:

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Membranes

Tarnovskaya, Svetlana I SI; Kostareva, Anna A AA; Zhorov, Boris S BS

Publication Date: 2021-08-07

Variant appearance in text: SCN1A: L1230F

PubMed Link: 34436362

Variant Present in the following documents:

• Main text
• membranes-11-00599.pdf

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: SCN1A: 3688C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: L1230F

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SCN1A: L1230F

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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