Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q273_V274Splc
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CHM

NM_000390.4:p.Q273_V274Splc

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

Genetic analysis of choroideremia families in the Australian population.

McLaren TL et al.

Clinical & Experimental Ophthalmology, 2015

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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."