Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1L
Variant:p.V214I
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RPGRIP1L

NM_015272.5:p.V214I

Associated Papers

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.

Al-Hamed MH et al.

Journal of Medical Genetics, 2016

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Bizet AA et al.

Nature Communications, 2015

26487268 (PubMed )
Supplement: ncomms9666-s1.pdf
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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."