Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1
Variant:p.K372delFs
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RPGRIP1

NM_020366.4:p.K372delFs

Associated Papers

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Zenteno JC et al.

Molecular Genetics & Genomic Medicine, 2020

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S et al.

American Journal of Human Genetics, 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."