Varaico: Literature-Extracted Genetic Variants

Gene:CHML
Variant:p.S175_V176delFs
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CHML

NM_001381853.1:p.S175_V176delFs

Associated Papers

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.

Strunnikova NV et al.

Plos One, 2009

The functional effect of pathogenic mutations in Rab escort protein 1.

Sergeev YV et al.

Mutation Research, 2009

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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."