MAP kinase-activated protein kinase 5 isoform 10 [Homo sapiens]

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Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder. [J Med Genet. 2023]
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
Maroofian R, Efthymiou S, Suri M, Rahman F, Zaki MS, Maqbool S, Anwa N, Ruiz-Pérez VL, Yanovsky-Dagan S, Elpeleg O, et al. J Med Genet. 2023 Aug; 60(8):791-796. Epub 2022 Dec 29.
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up. [Clin Genet. 2022]
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Vecchio D, Cocciadiferro D, Macchiaiolo M, Gonfiantini MV, Agolini E, Matraxia M, Carboni A, Coretti A, Villani A, Panfili FM, et al. Clin Genet. 2022 Aug; 102(2):142-148. Epub 2022 May 21.
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly. [Genet Med. 2021]
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Horn D, Fernández-Núñez E, Gomez-Carmona R, Rivera-Barahona A, Nevado J, Schwartzmann S, Ehmke N, Lapunzina P, Otaify GA, Temtamy S, et al. Genet Med. 2021 Apr; 23(4):679-688. Epub 2021 Jan 13.

RefSeq mRNA
See reference mRNA sequence for the MAPKAPK5 gene (NM_001371486.1).
RefSeq protein isoforms
See 11 reference sequence protein isoforms for the MAPKAPK5 gene.

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PREDICTED: Macaca thibetana thibetana ALG9 alpha-1,2-mannosyltransferase (ALG9),...
PREDICTED: Macaca thibetana thibetana ALG9 alpha-1,2-mannosyltransferase (ALG9), transcript variant X2, mRNA
gi|2309362335|ref|XM_050757702.1|

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