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Updated: May 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome

Alejandro Parra1,2,3,4, Mario Cazalla1,2,3,4, Juan A Jimenez-Estrada2

  • 1CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

American Journal of Medical Genetics. Part A
|April 3, 2025
PubMed
Abstract

Keywords:
NSD1RNA‐seqSotos syndromeepisignatureintronic variantmethylation patternwhole genome sequencing

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