Varaico: Literature-Extracted Genetic Variants

Gene:LRRC56
Variant:p.L165P
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LRRC56

NM_198075.4:p.L165P

Associated Papers

Physical and functional interaction of the ciliopathy proteins Lrrc56 and Odad3 control deployment of axonemal dyneins in vertebrate multiciliated cells.

Reyes-Nava NG et al.

Disease Models & Mechanisms, 2025

Physical and functional interaction of Lrrc56 and Odad3 controls deployment of axonemal dyneins in vertebrate multiciliated cells.

Reyes-Nava NG et al.

Biorxiv : the Preprint Server for Biology, 2025

Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.

Qin Y et al.

Bmc Genomics, 2025

LRRC56 deficiency cause motile ciliopathies in humans and mice.

Xie XH et al.

Frontiers in Genetics, 2025

Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia: A Cross Sectional Study.

Asseri AA et al.

Children (basel, Switzerland), 2023

Primary Ciliary Dyskinesia: Phenotype Resulting From a Novel Variant of LRRC56 Gene.

Alasmari BG et al.

Cureus, 2022

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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."