Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.E174V
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NSD1

NM_001365684.2:p.E174V

Associated Papers

A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.

Ruhrman-Shahar N et al.

American Journal of Medical Genetics. Part A, 2022

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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."