论文信息 - Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate - 字舞流文

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

J. Christodoulou | Z. Stark | K. Rose | S. Lunke | S. Cooper | A. Bournazos | I. Goranitis | M. Hunter | E. Krzesinski | Lauren S. Akesson | Fathimath Faiz | A. Fennell | M. Davis | Crystle Lee | David Francis | Kenneth Tan | A. Springer