Associated Papers
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.
Sun Y et al.
Frontiers in Genetics, 2019
31572438 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW et al.
Nature Communications, 2018
30283131 (PubMed )
Supplement: 41467_2018_6250_MOESM1_ESM.pdf
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