RING finger and SPRY domain-containing protein 1 isoform X1 [Homo sapi - Protein

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Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. [Am J Med Genet A. 2024]
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
Singh S, Shah H, Dalal A, Shukla A, Bhavani GS, Girisha KM. Am J Med Genet A. 2024 Aug; 194(8):e63601. Epub 2024 Apr 2.
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. [Am J Med Genet A. 2018]
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M. Am J Med Genet A. 2018 Sep; 176(9):2009-2016. Epub 2018 Jul 31.
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. [Am J Hum Genet. 2015]
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, et al. Am J Hum Genet. 2015 Oct 1; 97(4):608-15. Epub 2015 Sep 10.

RefSeq genomic sequence
See the genomic reference sequence for the RSPRY1 gene (NG_046342.1).
RefSeq mRNA
See reference mRNA sequence for the RSPRY1 gene (XM_024450483.2).
RefSeq protein isoforms
See 28 reference sequence protein isoforms for the RSPRY1 gene.

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Toxabramis houdemeri isolate HN3 early growth response 1 (EGR1) gene, partial cd...
Toxabramis houdemeri isolate HN3 early growth response 1 (EGR1) gene, partial cds
gi|2442091910|gb|OP251921.1|

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