Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.W244*
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DRC1

NM_145038.5:p.W244*

Associated Papers

The Genetic Defects of N-DRC in Male Infertility.

Qin J et al.

Clinical Genetics, 2026

A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea.

Hashizume R et al.

Journal of Human Genetics, 2024

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

Zhou Y et al.

Genes, 2024

Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.

Xu Y et al.

Journal of Human Genetics, 2023

Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.

Zhang J et al.

Human Molecular Genetics, 2021

A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect.

Ohya A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 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."