Varaico: Literature-Extracted Genetic Variants

Gene:PIBF1
Variant:p.E89Q
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PIBF1

NM_006346.4:p.E89Q

Associated Papers

A ciliopathy complex builds distal appendages to initiate ciliogenesis.

Kumar D et al.

The Journal of Cell Biology, 2021

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.

Ott T et al.

Frontiers in Physiology, 2019

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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."