Varaico: Literature-Extracted Genetic Variants

Gene:COL18A1
Variant:p.P620fs
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COL18A1

NM_001379500.1:p.P620fs

Associated Papers

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

Meng L et al.

Calcified Tissue International, 2025

41454937 (PubMed )
Supplement: 223_2025_1457_MOESM2_ESM.xlsx › Sheet1

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."