Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.A750fs
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PRG4

NM_005807.6:p.A750fs

Associated Papers

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Maddirevula S et al.

Genome Biology, 2020

32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
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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."