Varaico: Literature-Extracted Genetic Variants

Gene:KCNS1
Variant:p.Q524P
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KCNS1

NM_001322799.2:p.Q524P

Associated Papers

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Wang Y et al.

Scientific Reports, 2017

28074849 (PubMed )
Supplement: srep40319-s4.xls › Sheet1

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

Hammer MF et al.

Plos One, 2017

28686619 (PubMed )
Supplement: pone.0180485.s008.xlsx › Sheet1
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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."