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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOSTDC1

Variant:p.Q144R

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SOSTDC1

NM_015464.3:p.Q144R

hg38:chr7:16462738 T>C

Associated Papers

Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes.

Chakrabarti S et al.

Investigative Ophthalmology & Visual Science, 2007

18055790 (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."