Varaico: Literature-Extracted Genetic Variants

Gene:FAM149B1
Variant:p.Q147*
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FAM149B1

NM_173348.2:p.Q147*

Associated Papers

BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.

Satoda Y et al.

Molecular Biology of the Cell, 2022

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Shaheen R et al.

American Journal of Human Genetics, 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."