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Paper Details

Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.
Hum Mutat
2
2021
ERCC6, ERCC6 LoF variants, arrhythmia, atrial flutter, cardiac and electrocardiogram perturbations, exomes, immunodeficiency, immunoglobulin, inherited retinal disease, lymphocyte immunodeficiency, retinal disorders, retinal dystrophy, retinal, cardiac, and immune disorders
Author NameAffiliation
Hong-Hee WonSamsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center
Ruth J F LoosCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Ruth J F LoosMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Ruth J F LoosIcahn School of Medicine at Mount Sinai
Judy H ChoCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Judy H ChoIcahn School of Medicine at Mount Sinai
Judy H ChoIcahn School of Medicine at Mount Sinai
Judy H ChoIcahn School of Medicine at Mount Sinai
Louis R PasqualeIcahn School of Medicine at Mount Sinai
Louis R PasqualeEye and Vision Research Institute, New York Eye and Ear Infirmary of Mount Sinai
Girish N NadkarniCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Girish N NadkarniIcahn School of Medicine at Mount Sinai
Girish N NadkarniIcahn School of Medicine at Mount Sinai
Girish N NadkarniIcahn School of Medicine at Mount Sinai
Girish N NadkarniHasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai
Girish N NadkarniCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Girish N NadkarniIcahn School of Medicine at Mount Sinai
Girish N NadkarniIcahn School of Medicine at Mount Sinai
Girish N NadkarniIcahn School of Medicine at Mount Sinai
Girish N NadkarniHasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai
Ghislain RocheleauCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Ghislain RocheleauIcahn School of Medicine at Mount Sinai
Ron DoCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Ron DoIcahn School of Medicine at Mount Sinai
Ron DoIcahn School of Medicine at Mount Sinai
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