Varaico: Literature-Extracted Genetic Variants

Gene:GPRASP1
Variant:p.F192S
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GPRASP1

NM_001184727.2:p.F192S

Associated Papers

Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report.

Kurata K et al.

American Journal of Ophthalmology Case Reports, 2022

35112026 (PubMed )
Supplement: mmc1.xlsx › supple

Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.

Lee JS et al.

Gene, 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."