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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Dec 3, 2023. (Total: 223614Documents)
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Query Trace: Multiple Mitochondrial Dysfunctions Syndrome[original query]
Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1.
Journal of pediatric genetics 2018 8 7 (3): 130-133.
Shukla Anju, Kaur Parneet, Girisha Katta
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