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
Spinocerebellar ataxia subtype 40: Report of a case and review of literature.
Kale GB et al.
Parkinsonism & Related Disorders, 2024
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
Chen YJ et al.
Clinical Genetics, 2024
Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.
Boros FA et al.
International Journal of Molecular Sciences, 2023
Paroxysmal limbs jitter accompanied by different imaging findings in a Chinese family with spinocerebellar ataxia 40: Clinical and neuroimaging studies.
Guo JJ et al.
Neuro Endocrinology Letters, 2021
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Li N et al.
Breast Cancer Research : Bcr, 2018
29316957 (PubMed )
Supplement: 13058_2017_929_MOESM1_ESM.xlsx › Table_S3
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