Varaico: Literature-Extracted Genetic Variants

Gene:CFAP44
Variant:p.E463*
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CFAP44

NM_001164496.2:p.E463*

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.

Zhou Y et al.

Genes, 2024

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

Coutton C et al.

Nature Communications, 2018

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316
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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."