Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.W47*
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CHM

NM_000390.4:p.W47*

Associated Papers

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

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

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.

Han X et al.

Retina (philadelphia, Pa.), 2020

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

Sanchez-Alcudia R et al.

Plos One, 2016

A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.

Iino Y et al.

Japanese Journal of Ophthalmology, 0

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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."