Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K82I
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RPGR

NM_001034853.2:p.K82I

Associated Papers

Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.

Milhem RM et al.

Molecular Medicine (cambridge, Mass.), 2019

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

Mehawej C et al.

European Journal of Medical Genetics, 2012

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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."