Protein structure and phenotypic analysis of pathogenic and population missense variants inSTXBP1

Author:

Suri Mohnish1,Evers Jochem M. G.2,Laskowski Roman A.2,O'Brien Sinead3,Baker Kate34,Clayton-Smith Jill5,Dabir Tabib6,Josifova Dragana7,Joss Shelagh8,Kerr Bronwyn5,Kraus Alison9,McEntagart Meriel10,Morton Jenny11,Smith Audrey9,Splitt Miranda12,Thornton Janet M.2,Wright Caroline F.1314ORCID,

Affiliation:

1. Nottingham Regional Genetics Service; Nottingham University Hospitals NHS Trust; City Hospital Campus, The Gables, Hucknall Road Nottingham NG5 1PB UK

2. European Bioinformatics Institute (EMBL-EBI); Wellcome Genome Campus, Hinxton Cambridge CB10 1SD UK

3. MRC Cognition and Brain Sciences Unit; 15 Chaucer Road Cambridge CB2 7EF UK

4. Department of Medical Genetics; University of Cambridge; Cambridge Biomedical Campus Cambridge CB2 0QQ UK

5. Manchester Centre for Genomic Medicine; St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust; Manchester Academic Health Science Centre; Manchester M13 9WL UK

6. Northern Ireland Regional Genetics Centre; Belfast Health and Social Care Trust; Belfast City Hospital; Lisburn Road Belfast BT9 7AB UK

7. South East Thames Regional Genetics Centre; Guy's and St Thomas’ NHS Foundation Trust; Guy's Hospital; Great Maze Pond London SE1 9RT UK

8. West of Scotland Genetics Service; Queen Elizabeth University Hospital; Laboratory Medicine Building Glasgow G51 4TF UK

9. Yorkshire Regional Genetics Service; Department of Clinical Genetics; Leeds Teaching Hospitals NHS Trust; Chapel Allerton Hospital; Chapeltown Road Leeds LS7 4SA UK

10. South West Thames Regional Genetics Centre; St George's Healthcare NHS Trust; St George's University of London; Cranmer Terrace London SW17 0RE UK

11. West Midlands Regional Clinical Genetics Service and Birmingham Health Partners; Birmingham Women's and Children's NHS Foundation Trust; Birmingham Women's Hospital; Mindelsohn Way, Edgbaston Birmingham B15 2TG UK

12. Northern Genetics Service; Newcastle upon Tyne Hospitals NHS Foundation Trust; Institute of Human Genetics; International Centre for Life; Central Parkway Newcastle upon Tyne NE1 3BZ UK

13. Wellcome Trust Sanger Institute; Wellcome Genome Campus, Hinxton Cambridge CB1 8RQ UK

14. University of Exeter Medical School; Royal Devon & Exeter Hospital; Barrack Road Exeter EX2 5DW UK

Funder

Health Innovation Challenge Fund

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

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