Varaico: Literature-Extracted Genetic Variants

Gene:PIGW
Variant:p.K422M
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PIGW

NM_001346754.2:p.K422M

Associated Papers

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.

Di Scipio M et al.

Investigative Ophthalmology & Visual Science, 2020

32881472 (PubMed )
Supplement: iovs-61-10-36_s002.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."