Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.A527fs
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STXBP1

NM_001032221.6:p.A527fs

Associated Papers

Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.

Zhang Y et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021

Whole-genome sequencing of quartet families with autism spectrum disorder.

Yuen RK et al.

Nature Medicine, 2015

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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."