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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NMBR

Variant:p.S213S

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NMBR

NM_002511.4:p.S213S

hg38:chr6:142078687 T>C

Associated Papers

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

Nickerson ML et al.

Plos One, 2010

20505825 (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."