Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

Journal:
American Journal of Human Genetics
Published:
DOI:
10.1016/j.ajhg.2020.10.017
Affiliations:
20
Authors:
23
Institutions Authors Share
Swansea University, United Kingdom (UK)
3.250000
0.14
McMaster University, Canada
3.000000
0.13
University Hospital of Wales, United Kingdom (UK)
2.500000
0.11
Peking University First Hospital, China
2.000000
0.09
Cardiff University, United Kingdom (UK)
1.500000
0.07
Birmingham Women's Hospital, Birmingham Women's and Children's NHS Foundation Trust, United Kingdom (UK)
1.000000
0.04
Genomics England Ltd., United Kingdom (UK)
1.000000
0.04
Cipher Gene (Beijing) Co., Ltd., China
1.000000
0.04
Salford Royal NHS Foundation Trust, United Kingdom (UK)
1.000000
0.04
Alder Hey Children's NHS Foundation Trust, United Kingdom (UK)
1.000000
0.04
Hunter College of City University of New York (CUNY Hunter College), United States of America (USA)
1.000000
0.04
Royal Manchester Children's Hospital, MFT, United Kingdom (UK)
1.000000
0.04
Manchester Centre for Genomic Medicine (MCGM), United Kingdom (UK)
1.000000
0.04
The University of Sydney (USYD), Australia
1.000000
0.04
The Graduate Center of the City University of New York (CUNY Graduate Center), United States of America (USA)
1.000000
0.04
Morriston Hospital, NHS Wales, United Kingdom (UK)
0.500000
0.02
Children's Hospital at Westmead (CHW), USYD, Australia
0.250000
0.01