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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL2A1

Variant:p.G1164S

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COL2A1

NM_001844.5:p.G1164S

hg38:chr12:47976070 C>T

Associated Papers

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

Terhal PA et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012

22791362 (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."