Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA4
Variant:p.S517L
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CHRNA4

NM_000744.7:p.S517L

Associated Papers

A patient-derived mutation of epilepsy-linked LGI1 increases seizure susceptibility through regulating Kv1.1.

Zhou L et al.

Cell & Bioscience, 2023

36804022 (PubMed )
Supplement: 13578_2023_983_MOESM11_ESM.pdf

Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review.

Hu J et al.

Frontiers in Genetics, 2022

36685832 (PubMed )
Supplement: Table4.XLSX › Family_2

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
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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."