Varaico: Literature-Extracted Genetic Variants

Gene:PRPS1L1
Variant:p.N114S
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PRPS1L1

NM_175886.3:p.N114S

Associated Papers

Association of PRPS1 Mutations with Disease Phenotypes.

Mittal R et al.

Disease Markers, 2015

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Liu XZ et al.

International Journal of Audiology, 2013

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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."