Varaico: Literature-Extracted Genetic Variants

Gene:COL11A1
Variant:p.Q515E
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COL11A1

NM_001854.4:p.Q515E

Associated Papers

Analysis of children with familial short stature: who should be indicated for genetic testing?

Plachy L et al.

Endocrine Connections, 2023

37561071 (PubMed )
Supplement: supplementary_table_2.pdf

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

High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.

Plachy L et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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