Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.M1T
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COL2A1

NM_001844.5:p.M1T

Associated Papers

Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.

Ribeiro AC et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.

Sabir AH et al.

Bmc Medical Genomics, 2021

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

Richards AJ et al.

Human Mutation, 2010

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

McIntosh I et al.

American Journal of Human Genetics, 1998

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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."