Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.Q273_V274Splc
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CHM

NM_000390.4:p.Q273_V274Splc

Associated Papers

Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.

Renner AB et al.

Ophthalmology, 2006

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."