Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.S1001_G1002Splc
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COL2A1

NM_001844.5:p.S1001_G1002Splc

Associated Papers

Exemestane plus everolimus and palbociclib in metastatic breast cancer: clinical response and genomic/transcriptomic determinants of resistance in a phase I/II trial.

Gómez Tejeda Zañudo J et al.

Nature Communications, 2024

38503755 (PubMed )
Supplement: 41467_2024_45835_MOESM7_ESM.xlsx › Mutation_calls_-_WES

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.

Wang DD et al.

Bmc Medical Genetics, 2020

32039712 (PubMed )
Supplement: 12881_2020_963_MOESM1_ESM.xlsx › Sheet1

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP et al.

European Journal of Human Genetics : Ejhg, 2010

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

Richards AJ et al.

Human Mutation, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."