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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL2A1

Variant:p.G996D

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COL2A1

NM_001844.5:p.G996D

hg38:chr12:47978307 C>T

Associated Papers

Novel missense COL2A1 variant in a fetus with achondrogenesis type II.

Kobayashi Y et al.

Human Genome Variation, 2022

36376277 (PubMed )

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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."