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

Pubmed ID: 
32906196
Year: 
2020
Month: 
Sep
Citation: 
Akesson LS, Bournazos A, Fennell A, Krzesinski EI, Tan K, Springer A, Rose K, Goranitis I, Francis D, Lee C, Faiz F, Davis MR, Christodoulou J, Lunke S, Stark Z, Hunter MF, Cooper ST. Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. HUMAN MUTATION (2020) PubMed