Associated Papers
Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report.
Wu S et al.
Bmc Pediatrics, 2022
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable8._Rec_PseudoCtCADD20
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
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