Homo sapiens cDNA FLJ54913 complete cds, highly similar to Homo sapien - Nucleotide

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. [Am J Hum Genet. 2024]
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, et al. Am J Hum Genet. 2024 Jul 11; 111(7):1330-1351. Epub 2024 May 29.
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders. [Eur J Hum Genet. 2024]
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.
Lu X, Ng K, Pinto E Vairo F, Collins J, Cohn R, Riley K, Agre K, Gavrilova R, Klee EW, Rosenfeld JA, et al. Eur J Hum Genet. 2024 Jul; 32(7):879-883. Epub 2024 May 3.
MSL2 ensures biallelic gene expression in mammals. [Nature. 2023]
MSL2 ensures biallelic gene expression in mammals.
Sun Y, Wiese M, Hmadi R, Karayol R, Seyfferth J, Martinez Greene JA, Erdogdu NU, Deboutte W, Arrigoni L, Holz H, et al. Nature. 2023 Dec; 624(7990):173-181. Epub 2023 Nov 29.

RefSeq alternative splicing
See 6 reference mRNA sequence splice variants for the MSL2 gene.

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Nucleotide