Homo sapiens, clone IMAGE:4178997, mRNA, partial cds

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Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy. [Neuromuscul Disord. 2023]
Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.
Barington M, Dunø M, Birkedal U, Vissing J, Born AP, Krag T, Hansen TVO, Østergaard E. Neuromuscul Disord. 2023 Jul; 33(7):539-545. Epub 2023 May 24.
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. [Int J Mol Sci. 2023]
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Ronchi D, Fortunato F, Ciscato P, Velardo D, D'Angelo MG, et al. Int J Mol Sci. 2023 Mar 14; 24(6). Epub 2023 Mar 14.
Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study. [Endocr Metab Immune Disord Dru...]
Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study.
Shi TT, Liu HY, Zhu XR, Xin Z, Hua L, Xie RR, Sun R, Cao X, Yang JK. Endocr Metab Immune Disord Drug Targets. 2023; 23(9):1151-1161.

Homo sapiens, clone IMAGE:4178997, mRNA, partial cds
Homo sapiens, clone IMAGE:4178997, mRNA, partial cds
gi|18490110|gb|BC022236.1|

Nucleotide
2eggc.vipquU (0)
BioProject
Congenital bile acid synthesis defect
Congenital bile acid synthesis defect

MedGen

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Nucleotide