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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NSD1

Variant:p.H2021Y

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NSD1

NM_022455.5:p.H2021Y

hg38:chr5:177283838 C>T

Associated Papers

Seizures in Sotos syndrome: Phenotyping in 49 patients.

Fortin O et al.

Epilepsia Open, 2021

34033256 (PubMed )

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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."