Associated Papers
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
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Human Genomics, 2025
40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
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Frontiers in Genetics, 2022
36159980 (PubMed )
Supplement: Table1.XLSX › SNP
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