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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 COL5A2[original query]
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
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
American journal of medical genetics. Part A 2022 4 188 (7): 2192-2197.
Lavanya Katta, Mahtani Karishma, Abbott Jessica, Jain Angita, Selvam Pavalan, Atwal Herjot, Farres Houssam, Atwal Paldeep
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