Varaico: Literature-Extracted Genetic Variants

Gene:PSMD4
Variant:p.A55V
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PSMD4

NM_002810.4:p.A55V

Associated Papers

NPHS2 mutations account for only 15% of nephrotic syndrome cases.

Guaragna MS et al.

Bmc Medical Genetics, 2015

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Orten DJ et al.

Human Mutation, 2008

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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."