Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.T801_E802del2
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RPGR

NM_001034853.2:p.T801_E802del2

Associated Papers

A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).

Zhou Q et al.

American Journal of Medical Genetics. Part A, 2018

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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."