Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A1834V
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SCN1A

NM_001165963.4:p.A1834V

Associated Papers

Moyamoya syndrome secondary to mitochondrial disease in a patient with partial trisomy 13q14 and 13q31: A novel case report and literature review.

Abdul Rab S et al.

Heliyon, 2023

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S et al.

Molecular Psychiatry, 2017

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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."