Associated Papers
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
Guo J et al.
Human Genomics, 2025
40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1
A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.
Li Y et al.
Human Genetics, 2020
An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations.
Emperador S et al.
Frontiers in Genetics, 2014
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