MARIA MERCEDES
DURAN DOMINGUEZ
PROFESOR CONTRATADO DOCTOR
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Consejo Superior de Investigaciones Científicas
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Consejo Superior de Investigaciones Científicas (4)
2024
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Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations
Clinica Chimica Acta, Vol. 552
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
2022
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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants
Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101
2013
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Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles
Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618