Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.L108delFs
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CHM

NM_000390.4:p.L108delFs

Associated Papers

The protein truncation test (PTT) as a method of detection for choroideremia mutations.

Beaufrère L et al.

Experimental Eye Research, 1997

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."