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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNT1

Variant:p.T1001S

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KCNT1

NM_020822.3:p.T1001S

hg38:chr9:135784592 A>T

Associated Papers

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Majethia P et al.

Clinical Genetics, 2024

38374498 (PubMed )

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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."