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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Ehlers-Danlos Syndrome and COL1A2[original query]
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
American journal of medical genetics. Part A 2020 2 182 (5): 994-1007.
Ayoub Sandy, Ghali Neeti, Angwin Chloe, Baker Duncan, Baffini Stella, Brady Angela F, Giovannucci Uzielli Maria Luisa, Giunta Cecilia, Johnson Diana S, Kosho Tomoki, Neas Katherine, Pope F Michael, Rutsch Frank, Scarselli Gloria, Sobey Glenda, Vandersteen Anthony, van Dijk Fleur
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.
PloS one 2021 16 (5): e0251289.
Urbizu Aintzane, Garrett Melanie E, Soldano Karen, Drechsel Oliver, Loth Dorothy, Marcé-Grau Anna, Mestres I Soler Olga, Poca Maria A, Ossowski Stephan, Macaya Alfons, Loth Francis, Labuda Rick, Ashley-Koch Allis
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