Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.V828F
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COL1A2

NM_000089.4:p.V828F

Associated Papers

Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.

He J et al.

Open Life Sciences, 2024

Application of whole exome sequencing in fetal cases with skeletal abnormalities.

Cao J et al.

Heliyon, 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."