Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E998fs
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RPGR

NM_001034853.2:p.E998fs

Associated Papers

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

28224992 (PubMed )
Supplement: ejhg20179x6.xlsx › Supplemental_table_4

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

van Huet RA et al.

Molecular Vision, 2015

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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."