Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat

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Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome

Published:2023-12 Issue:12 Volume:66 Page:104882
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Suzuki Yasuyo,Nomura Noriko,Yamada Kenichiro,Yamada Yasukazu,Fukuda Ayumi,Hoshino Kyoko,Abe Shinpei,Kurosawa Kenji,Inaba Mie,Mizuno Seiji,Wakamatsu Nobuaki,Hayashi Shin^ORCID

Funder

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference41 articles.

1. Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons;Acedo;Hum. Mutat.,2015

2. Clinical features and management issues in Mowat-Wilson syndrome;Adam;Am. J. Med. Genet.,2006

3. Splicing mutations in human genetic disorders: examples, detection, and confirmation;Anna;J. Appl. Genet.,2018

4. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1;Ars;Hum. Mol. Genet.,2000

5. RNA splicing in human disease and in the clinic;Baralle;Clin. Sci.,2017

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