Upstream ORF frameshift variants in the PAX6 5′UTR cause Congenital Aniridia-Reference-Cited by-同舟云学术

Upstream ORF frameshift variants in the PAX6 5′UTR cause Congenital Aniridia

Published:2021-06-26 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Filatova Alexandra Yu.¹,Vasilyeva Tatyana A.¹,Marakhonov Andrey V.¹^ORCID,Sukhanova Natella V.²,Voskresenskaya Anna A.³,Zinchenko Rena A.¹⁴,Skoblov Mikhail Yu.¹

Affiliation:

1. Research Centre for Medical Genetics Moscow Russian Federation

2. Central Clinical Hospital of the Russian Academy of Sciences Moscow Russian Federation

3. Cheboksary Branch of the S. Fyodorov Eye Microsurgery Federal State Institution Cheboksary Russian Federation

4. N.A. Semashko National Research Institute of Public Health Moscow Russian Federation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24248

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2. Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease;Genome Medicine;2024-01-06

3. Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia;Journal of Medical Genetics;2023-11-30

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