Exome sequencing and <scp>RNA</scp> analysis identify two novel <scp> <i>CPLANE1</i> </scp> variants causing Joubert syndrome-Reference-Cited by-同舟云学术

Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome

Published:2022-01-29 Issue:3 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Fei Hongjun¹,Wu Yi¹,Wang Yanlin¹,Zhang Junyu¹^ORCID

Affiliation:

1. Department of Reproductive Genetics International Peace Maternity and Child Health Hospital Shanghai Jiao Tong University School of Medicine Shanghai China

Funder

Science and Technology Commission of Shanghai Municipality

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1877

Reference26 articles.

1. Molecular characterization of Joubert syndrome in Saudi Arabia

2. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

3. Expanded carrier screening for monogenic disorders: where are we now?

4. Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine

5. Variants of Uncertain Significance and “Missing Pathogenicity”

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