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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL11A2

Variant:p.P710L

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COL11A2

NM_080680.3:p.P710L

hg38:chr6:33176473 G>A

Associated Papers

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

Plachy L et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

33570564 (PubMed )

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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."