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List of works by Ángela Del Pozo

A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency

scientific article published on 16 April 2021

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of

scientific article published on 23 November 2018

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

scientific article published on 16 April 2021

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

scientific article published in 2021

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer

scientific article published on 09 January 2019

Somatic activating mutations in cause generalized lymphatic anomaly

scientific article published on 27 December 2018

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