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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 5, 2023. (Total: 223688Documents)
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Query Trace: Retinitis Pigmentosa and FLVCR1[original query]
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 8 174 (7): 732-739.
Castori Marco, Morlino Silvia, Ungelenk Martin, Pareyson Davide, Salsano Ettore, Grammatico Paola, Tolosano Emanuela, Kurth Ingo, Chiabrando Debor
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