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Search clinical trials for: Pathogenic Variant

Total 942 results

NCT07821593

Recruiting

Patient Experiences After Risk-Reducing Mastectomy Among Women Carrying BRCA1/2 Pathogenic Variants Without a Diagnosis of Breast Cancer

Heredo Familial Tumors | Psycho Oncological Support
NCT07764744

Not yet recruiting

Ovarian Cancer Liquid Biopsy for Early Assessment & Detection in Individuals With BRCA1/2 Pathogenic Variants (OC-LEAD)

Ovarian Neoplasms | BRCA 1 Gene Mutation | BRCA 2 Gene Mutation | Serous Tubal Intraepithelial Carcinoma | Early Detection of Ovarian Cancer
NCT07591532

Not yet recruiting

Pregnancy Outcomes After Breast Cancer in Young Women With Germline Pathogenic Variants in Genes Other Than BRCA (Beyond BCY)

Breast Cancer | Breast Cancer and Pregnancy
NCT07285421

Not yet recruiting

Renal and Vascular Phenotypic Characterization of Patients With Enamel Renal Syndrome Due to a Pathogenic Variant of the FAM20A Gene and Pathophysiological Study of Ectopic Calcifications (FAM-Cal)

Enamel Renal Syndrome
NCT06807723

Recruiting

Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene (2024-CF366)

WAC | DeSanto-Shinawi Syndrome | DESSH | WAC SYNDROME | OMIM#616708 | ORPHA:466943

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