Varaico: Literature-Extracted Genetic Variants

Gene:SEPHS1
Variant:p.R371Q
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SEPHS1

NM_012247.5:p.R371Q

Associated Papers

Zincore, an atypical coregulator, binds zinc finger transcription factors to control gene expression.

Bianchi D et al.

Science (new York, N.y.), 2025

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

Mullegama SV et al.

American Journal of Human Genetics, 2024

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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."