Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.A700fs
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PRX

NM_181882.3:p.A700fs

Associated Papers

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

Kancheva D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimoń M et al.

Neurogenetics, 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."