Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRX

Variant:p.A338delFs

Back to variants list

PRX

NM_181882.3:p.A338delFs

hg38:chr19:40397339 GC>G

Associated Papers

Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review.

Ma X et al.

Frontiers in Neurology, 2023

37470010 (PubMed )

Supplement: Table_1.docx

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Dohrn MF et al.

Journal of Neurochemistry, 2017

28902413 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."