Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37-Reference-Cited by-同舟云学术

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Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Published:2019-04 Issue:4 Volume:21 Page:948-954
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Booth Kevin T.,Askew James W.,Talebizadeh Zohreh,Huygen Patrick L.M.,Eudy James,Kenyon Judith,Hoover Denise,Hildebrand Michael S.,Smith Katherine R.,Bahlo Melanie,Kimberling William J.,Smith Richard J.H.,Azaiez Hela,Smith Shelley D.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-018-0285-0.pdf

Reference39 articles.

Cited by 39 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. Functional evaluation of rare variants in complement factor I using a minigene assay;Frontiers in Immunology;2024-08-22

2. Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA;Human Molecular Genetics;2024-04-27

3. shinyseg: a web application for flexible cosegregation and sensitivity analysis;Bioinformatics;2024-04-10

4. Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases;Genes;2024-04-06

5. Genetic architecture distinguishes tinnitus from hearing loss;Nature Communications;2024-01-19

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