Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.P710L
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COL2A1

NM_001844.5:p.P710L

Associated Papers

Letter to the Editor From Jee: "Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies".

Jee YH

The Journal of Clinical Endocrinology and Metabolism, 2022

Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.

Plachy L et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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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."