Novel homozygous nonsynonymous variant of <i>CNNM4</i> gene in a Chinese family with Jalili syndrome-Reference-Cited by-同舟云学术

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Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome

Published:2022-02-12 Issue:3 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Li Huajin¹,Huang Yanfeng¹,Li Jing¹,Xie Maosong¹^ORCID

Affiliation:

1. Department of Ophthalmology The First Affiliated Hospital of Fujian Medical University Fuzhou China

Funder

Natural Science Foundation of Fujian Province

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1860

Reference30 articles.

1. Amelogenesis imperfecta: a classification and catalogue for the 21st century

2. Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome

3. Features, genetics and their correlation in Jalili syndrome: a systematic review

4. Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America

5. Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

Cited by 2 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. Dentofacial manifestations in a child with Jalili syndrome;Special Care in Dentistry;2023-12-27

2. New insights into the structure and function of CNNM proteins;The FEBS Journal;2023-06-02

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