Associated Papers
A Rare Case of Profound Pulmonary Venous Malformation in an Elderly Individual With Three Major Comorbidities: Genetic Insights.
Frolov A et al.
Cureus, 2025
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.
Zeltner N et al.
Nature Medicine, 2016
27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants
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