Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2-Reference-Cited by-同舟云学术

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Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Published:2020-08 Issue:8 Volume:22 Page:1355-1365
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Mesman Romy L.S.^ORCID,Calléja Fabienne M.G.R.,de la Hoya Miguel^ORCID,Devilee Peter^ORCID,van Asperen Christi J.^ORCID,Vrieling Harry^ORCID,Vreeswijk Maaike P.G.^ORCID

Funder

Instituto de Salud Carlos III

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-0814-5.pdf

Reference40 articles.

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders;Genetics in Medicine;2024-06

2. Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2;Cancers;2023-12-06

3. Chromosome Pairing Through Tensioned DNA Tethers Revealed by BRCA2 Meiotic Domain Deletion;2023-10-06

4. Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays;Human Mutation;2023-08-31

5. Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian Cancer;Clinical Cancer Research;2023-04-17

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