Varaico: Literature-Extracted Genetic Variants

Gene:ROGDI
Variant:p.E16fs
Back to variants list

ROGDI

NM_024589.3:p.E16fs

Associated Papers

The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome.

Lee H et al.

Scientific Reports, 2017

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.

Tucci A et al.

Human Mutation, 2013

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."