Varaico: Literature-Extracted Genetic Variants

Gene:PRPS1L1
Variant:p.L152P
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PRPS1L1

NM_175886.3:p.L152P

Associated Papers

A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.

Agrahari AK et al.

Metabolic Brain Disease, 2018

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Gandía M et al.

Pediatric Research, 2015

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."