Homo sapiens collagen type VI alpha 1 chain (COL6A1), RefSeqGene (LRG_ - Nucleotide

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Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure. [Physiol Rep. 2024]
Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
Maksiutenko EM, Merkureva V, Barbitoff YA, Tsay VV, Aseev MV, Glotov AS, Glotov OS. Physiol Rep. 2024 Apr; 12(8):e16015.
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.