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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 COL6A5[original query]
COL6A5 variants in familial neuropathic chronic itch.
Brain : a journal of neurology 2017 1 140 (3): 555-567.
Martinelli-Boneschi Filippo, Colombi Marina, Castori Marco, Devigili Grazia, Eleopra Roberto, Malik Rayaz A, Ritelli Marco, Zoppi Nicoletta, Dordoni Chiara, Sorosina Melissa, Grammatico Paola, Fadavi Hassan, Gerrits Monique M, Almomani Rowida, Faber Catharina G, Merkies Ingemar S J, Toniolo Daniela, , Cocca Massimiliano, Doglioni Claudio, Waxman Stephen G, Dib-Hajj Sulayman D, Taiana Michela M, Sassone Jenny, Lombardi Raffaella, Cazzato Daniele, Zauli Andrea, Santoro Silvia, Marchi Margherita, Lauria Giusep
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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