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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENDOU

Variant:p.D315_S318del4

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ENDOU

NM_001172439.2:p.D315_S318del4

hg38:chr12:47712533 GACTGTAATAGTC>G

Associated Papers

Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia.

DeLuca AP et al.

Ophthalmology Science, 2023

38025158 (PubMed )

Supplement: mmc1.pdf

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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."