Varaico: Literature-Extracted Genetic Variants

Gene:NSD2
Variant:p.P906L
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NSD2

NM_001042424.3:p.P906L

Associated Papers

Loss-of-function mutation of NSD2 is associated with abnormal placentation accompanied by fetal growth retardation in mice.

Ohnishi E et al.

Plos One, 2025

Correction: Loss-of-function mutation of NSD2 is associated with abnormal placentation accompanied by fetal growth retardation in mice.

Ohnishi E et al.

Plos One, 2025

41086146 (PubMed )
Supplement: pone.0334633.s001.xlsx › S1_Table

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Kawai T et al.

Genetics in Medicine Open, 2024

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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."