Varaico: Literature-Extracted Genetic Variants

Gene:ERG
Variant:p.P216L
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ERG

NM_182918.4:p.P216L

Associated Papers

Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.

Jacobson SG et al.

Investigative Ophthalmology & Visual Science, 2006

Effects of adeno-associated virus-vectored ciliary neurotrophic factor on retinal structure and function in mice with a P216L rds/peripherin mutation.

Bok D et al.

Experimental Eye Research, 2002

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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."