Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.S249delFs
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CHM

NM_000390.4:p.S249delFs

Associated Papers

FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY.

Wynne N et al.

Retina (philadelphia, Pa.), 2024

Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial.

Aleman TS et al.

Ophthalmology, 2022

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

Han RC et al.

Expert Opinion on Orphan Drugs, 2021

Cone Identification in Choroideremia: Repeatability, Reliability, and Automation Through Use of a Convolutional Neural Network.

Morgan JIW et al.

Translational Vision Science & Technology, 2020

Visual Function at the Atrophic Border in Choroideremia Assessed with Adaptive Optics Microperimetry.

Tuten WS et al.

Ophthalmology. Retina, 2019

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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."