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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EMC1

Variant:p.R990W

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EMC1

NM_015047.3:p.R990W

hg38:chr1:19219317 G>A

Associated Papers

Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.

Kurata K et al.

Japanese Journal of Ophthalmology, 2018

29305715 (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."