Homo sapiens cDNA, FLJ93024, highly similar to Homo sapiens EGF-contai - Nucleotide

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Replication study identified EFEMP1 association with varicose vein predisposition among Indians. [Eur J Med Res. 2024]
Replication study identified EFEMP1 association with varicose vein predisposition among Indians.
Mehra R, Patra V, Dhillan R, Sharma A, Kashyap S, Rastogi G, Gupta L, Singh R, Chopra C, Sharma V. Eur J Med Res. 2024 Apr 12; 29(1):232. Epub 2024 Apr 12.
Stop codon variant in EFEMP1 is associated with primary open-angle glaucoma due to impaired regulation of aqueous humor outflow. [Exp Eye Res. 2024]
Stop codon variant in EFEMP1 is associated with primary open-angle glaucoma due to impaired regulation of aqueous humor outflow.
Tan J, Cai S, Luo X, Li Q, Chen Y, Chen Z, Mao Y, Liu G, Yang M, Liu X. Exp Eye Res. 2024 Apr; 241:109859. Epub 2024 Mar 11.
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. [Am J Med Genet A. 2024]
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Forghani I, Lang SH, Rodier MJ, Bivona SA, Undiagnosed Diseases Network, Morales AA, Zuchner S, Bademci G, Tekin M. Am J Med Genet A. 2024 Jun; 194(6):e63556. Epub 2024 Feb 13.

RefSeq alternative splicing
See 6 reference mRNA sequence splice variants for the EFEMP1 gene.

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Nucleotide