Associated Papers
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
Wen W et al.
Bmc Medical Genetics, 2016
26843370 (PubMed )
Supplement: 12881_2016_273_MOESM1_ESM.xlsx › Sheet1
Select a paper to view details