Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.S759*
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NSD1

NM_022455.5:p.S759*

Associated Papers

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

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

Lourdes VH et al.

Frontiers in Pediatrics, 2023

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Álvarez-Mora MI et al.

Orphanet Journal of Rare Diseases, 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."