Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Q1904*
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SCN1A

NM_001165963.4:p.Q1904*

Associated Papers

Genomic Complexity Predicts Resistance to Endocrine Therapy and CDK4/6 Inhibition in Hormone Receptor-Positive (HR+)/HER2-Negative Metastatic Breast Cancer.

Davis AA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36693175 (PubMed )
Supplement: ccr-22-2177_supplementary_data_s1_suppds1.xlsx › Variants

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS

Revealing the Molecular Portrait of Triple Negative Breast Tumors in an Understudied Population through Omics Analysis of Formalin-Fixed and Paraffin-Embedded Tissues.

Vaca-Paniagua F et al.

Plos One, 2015

25961742 (PubMed )
Supplement: pone.0126762.s015.xlsx › S11_Table

A catalog of SCN1A variants.

Lossin C

Brain & Development, 2009

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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."