Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRL
Variant:p.L292I
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PDGFRL

NM_001372073.1:p.L292I

Associated Papers

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.

Munson HE et al.

Bmc Medical Genomics, 2023

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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."