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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 1, 2023. (Total: 223516Documents)
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Query Trace: Efficiency and COL2A1[original query]
Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.
Human mutation 2016 Jul .
Spickett Carl, Hysi Pirro, Hammond Chistopher J, Prescott Alan, Fincham Gregory S, Poulson Arabella V, McNinch Annie M, Richards Allan J, Snead Martin
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