Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.L537P
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STXBP1

NM_001032221.6:p.L537P

Associated Papers

Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.

Agarwala P et al.

Brain Communications, 2023

Infantile spasms: Etiology, lead time and treatment response in a resource limited setting.

Surana P et al.

Epilepsy & Behavior Reports, 2020

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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."