Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.E1974K
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NSD1

NM_022455.5:p.E1974K

Associated Papers

Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.

Lourdes VH et al.

Frontiers in Pediatrics, 2023

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Tatton-Brown K et al.

American Journal of Human Genetics, 2017

28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
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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."