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Exome Sequencing Links the SUMO Protease SENP7 with Fatal Arthrogryposis Multiplex Congenita, Early Respiratory Failure and Neutropenia.

Nadra Samra,Nicolette S. Jansen,Ilham Morani,Reli Rachel Kakun,Rinat Zaid,Tamar Paperna,Mario Garcia-Dominguez,Yuri Viner,Hilel Frankenthal,Eric S. Shinwell,Igor Portnov,Doua Bakry,Adel Shalata,Mika Shapira Rootman,Dvora Kidron,Laura A. Claessens,Ron A. Wevers,Hanna Mandel,Alfred C. O. Vertegaal,Karin Weiss

JOURNAL OF MEDICAL GENETICS（2023）

Cited 3|Views36
Key words
nervous system diseases,allergy and immunology,proteomics
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