Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.E204insFs
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CHM

NM_000390.4:p.E204insFs

Associated Papers

Prenatal diagnosis of choroideremia.

Schwartz M et al.

Acta Ophthalmologica Scandinavica. Supplement, 1996

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."