collagen, type VI, alpha 1, isoform CRA_a [Homo sapiens]

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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.
Association analysis and functional study of COL6A1 single nucleotide polymorphisms in thoracic ossification of the ligamentum flavum in the Chinese Han population. [Eur Spine J. 2021]
Association analysis and functional study of COL6A1 single nucleotide polymorphisms in thoracic ossification of the ligamentum flavum in the Chinese Han population.
Qu X, Hou X, Chen Z, Chen G, Fan T, Yang X. Eur Spine J. 2021 Oct; 30(10):2782-2790. Epub 2021 Jul 21.
Identification of COL6A1 as the Key Gene Associated with Antivascular Endothelial Growth Factor Therapy in Glioblastoma Multiforme. [Genet Test Mol Biomarkers. 2021]
Identification of COL6A1 as the Key Gene Associated with Antivascular Endothelial Growth Factor Therapy in Glioblastoma Multiforme.
Lin H, Yang Y, Hou C, Zheng J, Lv G, Mao R, Xu P, Chen S, Zhou Y, Wang P, et al. Genet Test Mol Biomarkers. 2021 May; 25(5):334-345. Epub 2021 May 10.

RefSeq genomic sequence
See the genomic reference sequence for the COL6A1 gene (NG_008674.1).
RefSeq protein
See the reference protein sequence for collagen alpha-1(VI) chain precursor (NP_001839.2).

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PREDICTED: Homo sapiens WD repeat domain 20 (WDR20), transcript variant X2, mRNA
PREDICTED: Homo sapiens WD repeat domain 20 (WDR20), transcript variant X2, mRNA
gi|2462542143|ref|XM_054376993.1|

Nucleotide
WD repeat-containing protein 20 isoform 2 [Homo sapiens]
WD repeat-containing protein 20 isoform 2 [Homo sapiens]
gi|31317280|ref|NP_653175.2|

Protein
unnamed protein product, partial [Homo sapiens]
unnamed protein product, partial [Homo sapiens]
gi|1335031|emb|CAA29555.1|

Protein
collagen type VI alpha 1(VI) chain, partial [Homo sapiens]
collagen type VI alpha 1(VI) chain, partial [Homo sapiens]
gi|8176524|gb|AAB20835.2||bbm|17575 |75421

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