DSP variant protein [Homo sapiens]

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DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort. [Int J Mol Sci. 2023]
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.
Di Lorenzo F, Marchionni E, Ferradini V, Latini A, Pezzoli L, Martino A, Romeo F, Iorio A, Bianchi S, Iascone M, et al. Int J Mol Sci. 2023 Jan 27; 24(3). Epub 2023 Jan 27.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. [Circ Genom Precis Med. 2023]
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET, Burns C, Marsili L, Corden B, Parikh VN, Te Meerman GJ, Gray B, Adiyaman A, Bagnall RD, Barge-Schaapveld DQCM, et al. Circ Genom Precis Med. 2023 Feb; 16(1):e003672. Epub 2022 Dec 29.
A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. [Clin Exp Dermatol. 2022]
A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.
Ou S, Cesarato N, Mauran P, Gellé MP, Thiele H, Betz RC, Viguier M, Gusdorf L. Clin Exp Dermatol. 2022 Jul; 47(7):1424-1426. Epub 2022 May 16.

RefSeq genomic sequence
See the genomic reference sequence for the DSP gene (NG_008803.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the DSP gene.

Nucleotide
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Protein