Varaico: Literature-Extracted Genetic Variants

Gene:PRPSAP1
Variant:p.Q133P
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PRPSAP1

NM_002766.3:p.Q133P

Associated Papers

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

Gandía M et al.

Pediatric Research, 2015

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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."