Varaico: Literature-Extracted Genetic Variants

Gene:CFAP53
Variant:p.L405Splc
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CFAP53

NM_145020.5:p.L405Splc

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

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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."