Varaico: Literature-Extracted Genetic Variants

Gene:SUPT16H
Variant:p.Q648R
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SUPT16H

NM_007192.4:p.Q648R

Associated Papers

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

Lee E et al.

Human Molecular Genetics, 2026

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Yoon JG et al.

Genome Medicine, 2025

40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST2
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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."