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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF2AK2

Variant:p.P53R

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EIF2AK2

NM_001135651.3:p.P53R

hg38:chr2:37146935 G>C

Associated Papers

A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.

Behnen P et al.

Iscience, 2018

30240733 (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."