Varaico: Literature-Extracted Genetic Variants

Gene:CFAP53
Variant:p.R158G
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CFAP53

NM_145020.5:p.R158G

Associated Papers

Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review.

Guo Z et al.

Journal of Applied Genetics, 2025

Prenatal CFAP53-related laterality defect: case report and review of the literature.

Mastromoro G et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2023

De novo identification of mammalian ciliary motility proteins using cryo-EM.

Gui M et al.

Cell, 2021

A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.

Noël ES et al.

Human Mutation, 2016

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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."