Associated Papers
A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis.
Kotecha U et al.
Clinical Genetics, 2025
Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.
Saad AK et al.
Clinical Genetics, 2025
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