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Clinical Genetics (M.D.) Physician in San Francisco, CA
NPI: 1063617298Primary Practice Location
UCSF MEDICAL CENTER
1975 4th St, San Francisco, CA
Primary Employer
UCSF Medical Center
ucsfhealth.org
HQ Phone
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Response to Hamosh et al.
Authors: Ghayda Mirzaa, Laurie Seaver, Ian Glass, Marc Williams, Robin Clark, Lynne Bird, Elaine Zackai, Mary Beth Dinulos, Margaret Adam, Beth Kozel, Alan Rope, Michael Bamshad, Leslie Biesecker, John Graham, David Weaver, Philip Giampietro, Jennifer Kalish, Anita Beck
Publication Date: 2021-09-03
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.