Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)-Reference-Cited by-同舟云学术

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

Published:2019-10-31 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Tejada María Isabel,Villate Olatz,Ibarluzea Nekane,de la Hoz Ana Belén,Martínez-Bouzas Cristina,Beristain Elena,Martínez Francisco,Friez Michael J.,Sobrino Beatriz,Barros Francisco

Funder

Eusko Jaurlaritza

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference26 articles.

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5. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability;Callier;Clin. Genet.,2013

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