3'-5' exoribonuclease 1 isoform X3 [Homo sapiens]

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Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. [Am J Hum Genet. 2023]
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, et al. Am J Hum Genet. 2023 Jul 6; 110(7):1068-1085. Epub 2023 Jun 22.
ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities. [Am J Med Genet A. 2023]
ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities.
Hoxha V, Aliu E. Am J Med Genet A. 2023 Jan; 191(1):64-69. Epub 2022 Oct 8.
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation. [Am J Med Genet A. 2017]
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.
Choucair N, Rajab M, Mégarbané A, Chouery E. Am J Med Genet A. 2017 Jul; 173(7):1955-1960. Epub 2017 May 9.

RefSeq mRNA
See reference mRNA sequence for the ERI1 gene (XM_011543850.4).
RefSeq protein isoforms
See 17 reference sequence protein isoforms for the ERI1 gene.

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Protein