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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Query Trace: Familial Partial Lipodystrophy Type K[original query]
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.
Clinical diabetes and endocrinology 2020 7 6 13.
Soyaltin Utku Erdem, Simsir Ilgin Yildirim, Akinci Baris, Altay Canan, Adiyaman Suleyman Cem, Lee Kristen, Onay Huseyin, Oral Elif Ariog
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