Varaico: Literature-Extracted Genetic Variants

Gene:COL9A2
Variant:p.P62L
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COL9A2

NM_001852.4:p.P62L

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_3.pdf

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

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

Chen M et al.

Frontiers in Endocrinology, 2022

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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."