Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G909S
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COL2A1

NM_001844.5:p.G909S

Associated Papers

Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.

Chen M et al.

Frontiers in Endocrinology, 2022

Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.

Liu L et al.

European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society, 2016

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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."