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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: Fibrochondrogenesis[original query]
A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea.
Annals of pediatric endocrinology & metabolism 2024 5 29 (2): 135-137.
Jaesung Jeon, Minji Kim, Sukdong Yoo, Yoomi Kim, Chong Kun Che
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