Associated Papers
Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.
Gaviria-Sabogal CC et al.
Human Molecular Genetics, 2025
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.
Bernal-Bonilla IT et al.
The Application of Clinical Genetics, 2025
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