Varaico: Literature-Extracted Genetic Variants

Gene:ASCL5
Variant:p.R168H
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ASCL5

NM_001270601.2:p.R168H

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."