Homo sapiens myotilin (MYOT), RefSeqGene (LRG_201) on chromosome 5

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A novel in-frame deletion in MYOT causes an early adult onset distal myopathy. [Clin Genet. 2023]
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Guglielmi V, Pancheri E, Cannone E, Nigro V, Malatesta M, Vettori A, Giorgetti A, Torella A, Aurino S, Cisterna B, et al. Clin Genet. 2023 Dec; 104(6):705-710. Epub 2023 Aug 8.
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish. [Int J Mol Sci. 2023]
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
Cannone E, Guglielmi V, Marchetto G, Tobia C, Gnutti B, Cisterna B, Tonin P, Barbon A, Vattemi G, Schiavone M. Int J Mol Sci. 2023 Jul 14; 24(14). Epub 2023 Jul 14.
Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells. [Dis Markers. 2023]
Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells.
Lin ZJ, Xu JM, Ji HY, Jiang YQ, Su J, Fan LL, Yu R. Dis Markers. 2023; 2023:3350685. Epub 2023 Feb 2.

RefSeq alternative splicing
See 5 reference mRNA sequence splice variants for the MYOT gene.

Protein
Protein sequence from Nucleotide coding region
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RNA
RNA sequence records that are annotated on the current genomic nucleotide sequences. The RNA records represent aligned or predicted transcripts of the current records.
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Taxonomy Links for Nucleotide (Select 384581862) (1)
Taxonomy
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Werauhia gladioliflora]
gi|384589487|gb|AFI19400.1|

Protein
Related DataSets for GEO Profiles (Select 65747240) (1)
GEO DataSets
Transcription factor Ovo1 depletion effect on 12 hour post-fertilization embryos
Transcription factor Ovo1 depletion effect on 12 hour post-fertilization embryos
Accession: GDS3719

GEO DataSets
1531490[uid] (1)
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Nucleotide