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A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors

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Description scientific article published on 01 December 2018
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author: Fabiana D'Esposito  Daniele Dell'Orco  B Falsini  Paolo Maltese 

Publication date December 1, 2018
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