Associated Papers
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
Buianova A et al.
Plos One, 2024
39423205 (PubMed )
Supplement: pone.0312335.s007.xlsx › Family_A
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
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