Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.P273S
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CFI

NM_000204.5:p.P273S

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

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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."