Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Y217fs
Back to variants list

CHM

NM_000390.4:p.Y217fs

Associated Papers

REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.

Cunha DL et al.

Jci Insight, 2021

33755601 (PubMed )
Supplement: jciinsight-6-146934-s120.pdf

Optical coherence tomography (OCT) features of cystoid spaces in choroideremia (CHM).

Murro V et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019

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."