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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25.
Heart. 2020.
PMID: 32451364
Free PMC article.
Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1.
García-Aznar JM, Ramírez N, De Uña D, Santiago E, Monserrat L.
García-Aznar JM, et al. Among authors: de una d.
J Pediatr Genet. 2021 Jun;10(2):139-146. doi: 10.1055/s-0040-1710058. Epub 2020 Apr 21.
J Pediatr Genet. 2021.
PMID: 33996185
Free PMC article.
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Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A Genes.
Trujillo-Quintero JP, Gutiérrez-Agulló M, Ochoa JP, Martínez-Martínez JG, de Uña D, García-Fernández A.
Trujillo-Quintero JP, et al. Among authors: de una d.
Rev Esp Cardiol (Engl Ed). 2019 Feb;72(2):176-178. doi: 10.1016/j.rec.2017.12.021. Epub 2018 Apr 9.
Rev Esp Cardiol (Engl Ed). 2019.
PMID: 29650450
English, Spanish.
No abstract available.
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