obscurin isoform c [Homo sapiens]

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Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis. [Neuromuscul Disord. 2024]
Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis.
Zemorshidi F, Töpf A, Claeys KG, McFarlane A, Patton A, Nafissi S, Straub V. Neuromuscul Disord. 2024 Jan; 34:83-88. Epub 2023 Oct 30.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. [Brain. 2022]
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, et al. Brain. 2022 Nov 21; 145(11):3985-3998.
Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy. [Circ Genom Precis Med. 2021]
Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy.
Wu G, Liu J, Liu M, Huang Q, Ruan J, Zhang C, Wang D, Sun X, Jiang W, Kang L, et al. Circ Genom Precis Med. 2021 Oct; 14(5):e003401. Epub 2021 Oct 4.

RefSeq genomic sequence
See the genomic reference sequence for the OBSCN gene (NG_032122.1).
RefSeq mRNA
See reference mRNA sequence for the OBSCN gene (NM_001386125.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the OBSCN gene.

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