Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.H711Q
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NSD1

NM_022455.5:p.H711Q

Associated Papers

Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.

Zhao J et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.

Ren Z et al.

Bmc Medical Genomics, 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."