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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AVPR2

Variant:p.C224*

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AVPR2

NM_000054.7:p.C224*

hg38:chrX:153906178 C>A

Associated Papers

The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.

Ehrenberg M et al.

Molecular Vision, 2019

31814694 (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."