Varaico: Literature-Extracted Genetic Variants

Gene:SUPT16H
Variant:p.N571S
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SUPT16H

NM_007192.4:p.N571S

Associated Papers

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Lee E et al.

Human Molecular Genetics, 2026

De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.

Bina R et al.

Journal of Medical Genetics, 2020

A Japanese boy with SUPT16H-related neurodevelopmental disorder and congenital heart defects.

Nishikiori A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."