Associated Papers
Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.
Kinjo K et al.
Scientific Reports, 2020
32620854 (PubMed )
Supplement: 41598_2020_67715_MOESM2_ESM.xlsx › Supplementary_Table_1
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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