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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 16, 2025. (Total: 235382Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Otosclerosis and ACAN[original query]
High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.
European journal of endocrinology 2019 Dec .
Stavber L, Hovnik T, Kotnik P, Lovre?i? L, Kova? J, Tesovnik T, Bertok S, Dov? K, Debeljak M, Battelino T, Avbelj Stefanija
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.
Human genetics 2021 Aug .
Højland Allan Thomas, Tavernier Lisse J M, Schrauwen Isabelle, Sommen Manou, Topsakal Vedat, Schatteman Isabelle, Dhooge Ingeborg, Huber Alex, Zanetti Diego, Kunst Henricus P M, Hoischen Alexander, Petersen Michael B, Van Camp Guy, Fransen Er
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