Varaico: Literature-Extracted Genetic Variants

Gene:PRG4
Variant:p.P586S
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PRG4

NM_001127710.3:p.P586S

Associated Papers

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.

Maroofian R et al.

Kidney International Reports, 2018

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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."