Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.S822Y
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NSD1

NM_022455.5:p.S822Y

Associated Papers

Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population.

Yu XX et al.

Pediatric Research, 2021

Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

Sio CA et al.

Pediatric Research, 2017

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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."