Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes-Reference-Cited by-同舟云学术

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes

Published:2020-05-19 Issue:5 Volume:84 Page:380-392
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Čopíková Jana¹^ORCID,Paděrová Jana¹^ORCID,Románková Věra¹^ORCID,Havlovicová Markéta¹^ORCID,Balaščáková Miroslava¹^ORCID,Zelinová Michaela¹^ORCID,Vejvalková Šárka¹^ORCID,Simandlová Martina¹^ORCID,Štěpánková Jana²^ORCID,Hořínová Věra³^ORCID,Kantorová Eva⁴^ORCID,Křečková Gabriela⁵^ORCID,Pospíšilová Jana⁶^ORCID,Boday Arpád⁶^ORCID,Meszarosová Anna Uhrová⁷^ORCID,Turnovec Marek¹^ORCID,Votýpka Pavel¹^ORCID,Lišková Petra⁸⁹^ORCID,Kremlíková Pourová Radka¹^ORCID

Affiliation:

1. Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and University Hospital Motol Prague Czech Republic

2. Department of Ophthalmology, Second Faculty of Medicine Charles University and University Hospital Motol Prague Czech Republic

3. Reprofit International Brno Czech Republic

4. Department of Medical Genetics Nemocnice České Budějovice České Budějovice Czech Republic

5. GENNET Liberec Czech Republic

6. Molecular Biology AGEL Laboratories Nový Jičín Czech Republic

7. DNA Laboratory, Department of Child Neurology, Second Faculty of Medicine Charles University and University Hospital Motol Prague Czech Republic

8. Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

9. Department of Ophthalmology, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

Funder

Grantová Agentura, Univerzita Karlova

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12386

Reference30 articles.

1. A method and server for predicting damaging missense mutations