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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL2A1

Variant:p.S578_G579Splc

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COL2A1

NM_001844.5:p.S578_G579Splc

hg38:chr12:47985529 C>T

Associated Papers

Ophthalmic and molecular genetic findings in Kniest dysplasia.

Sergouniotis PI et al.

Eye (london, England), 2015

25592122 (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."