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Article

Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.

Clinical genetics - 1 Jun 2025

Saad Ahmed K, Hassan Nagwa H, Soliman Hala N, Zaki Maha S, Senousy Sameh M, El-Dessouky Sara H

Abstract excerpt

SUMOylation involves covalent attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on target proteins and regulates various aspects of their function. Sentrin-specific proteases (SENPs) are key players in both the conjugation reaction of SUMO proteins to their targets and the subsequent deconjugation of SUMO-conjugated substrates. Here, we provide the first comprehensive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39763084
DOI: 10.1111/cge.14695

Genes

SENP7

Variants

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