Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G1164C
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COL2A1

NM_001844.5:p.G1164C

Associated Papers

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Carss KJ et al.

Human Molecular Genetics, 2014

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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."