@timekendo82
Active 3 years, 4 months ago
Peripheral blood karyotypes had been regular. Whole-exome sequencing research patients’ genomes generated the discovery involving the same missense (p.Pro143Arg) along with frameshift removal variations (s.Pro251fs*45) in CHRNG. We were holding unusual installments of hereditary arthrogryposis multiplex related to novel recessive CHRNG variants […] View
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