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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIGR

Variant:p.R664W

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PIGR

NM_002644.4:p.R664W

hg38:chr1:206932474 G>A

Associated Papers

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.

Huppke P et al.

Nature Communications, 2017

29018201 (PubMed )

Supplement: 41467_2017_932_MOESM1_ESM.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."