abca4 Literature

Summary

Expression

Phenotypes

Gene Literature (4)

XB--1000809

Papers associated with abca4 (and OMIM)

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	ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies., Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR., Hum Mol Genet. October 1, 2005; 14 (19): 2769-78.
	TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa., Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V., JCI Insight. November 8, 2023; 8 (21):

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies., Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR., Hum Mol Genet. October 1, 2005; 14 (19): 2769-78.

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa., Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V., JCI Insight. November 8, 2023; 8 (21):

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