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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs
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