Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.K1308insFs
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SPEF2

NM_024867.4:p.K1308insFs

Associated Papers

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

Zhou Y et al.

Genes, 2024

Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.

Lu W et al.

Journal of Assisted Reproduction and Genetics, 2024

Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review.

Mori M et al.

Journal of Clinical Medicine, 2022

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD.

Tu C et al.

Human Genetics, 2020

Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans.

Li DY et al.

Asian Journal of Andrology, 0

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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."