Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHTKD1

Variant:p.R559G

Back to variants list

DHTKD1

NM_018706.7:p.R559G

hg38:chr10:12100181 A>G

Associated Papers

A novel DHTKD1 variant is associated with an atypical form of Charcot-Marie-Tooth disease type 2Q?

Matteoni E et al.

Acta Neurologica Belgica, 2024

37907797 (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."