Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.W288*
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STXBP1

NM_001032221.6:p.W288*

Associated Papers

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

Nagarajan B et al.

Epilepsia Open, 2023

A de novo nonsense mutation of STXBP1 causes early-onset epileptic encephalopathy.

Suo G et al.

Epilepsy & Behavior : E&b, 2021

Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.

Hoelz H et al.

Clinical Eeg and Neuroscience, 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."