Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q63_E64Splc
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CHM

NM_000390.4:p.Q63_E64Splc

Associated Papers

Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA.

Dimopoulos IS et al.

Retina (philadelphia, Pa.), 2018

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

Sanchez-Alcudia R et al.

Plos One, 2016

New type of mutations in three spanish families with choroideremia.

Garcia-Hoyos M et al.

Investigative Ophthalmology & Visual Science, 2008

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

van den Hurk JA et al.

Human Genetics, 2003

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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."