Maria Desamparados
Sarabia Meseguer
Asociado Ciencias de la Salud
Miguel
Marín
Publikationen, an denen er mitarbeitet Miguel Marín (8)
2023
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Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia
Advances in Laboratory Medicine, Vol. 4, Núm. 3, pp. 279-287
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Variantes genéticas recurrentes y priorización de variantes de significado clínico desconocido asociadas al síndrome de cáncer de mama y ovario hereditario en familias de la Región de Murcia
Advances in Laboratory Medicine, Vol. 4, Núm. 3, pp. 288-297
2022
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Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance
European Journal of Medical Genetics, Vol. 65, Núm. 4
2021
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Utilidad de los algoritmos de priorización de variantes con significado clínico desconocido en el síndrome de cáncer de mama y ovario hereditario
Revista de Medicina de Laboratorio, Vol. 2, Núm. 1, pp. 21-29
2018
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Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain)
European Journal of Medical Genetics, Vol. 61, Núm. 6, pp. 355-361
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New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer
Cancer Genetics, Vol. 228-229, pp. 1-4
2017
2014
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Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry
Familial Cancer, Vol. 13, Núm. 3, pp. 431-435