Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.R554*
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DRC1

NM_145038.5:p.R554*

Associated Papers

The Genetic Defects of N-DRC in Male Infertility.

Qin J et al.

Clinical Genetics, 2026

Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

Zhou Y et al.

Science Advances, 2025

41071877 (PubMed )
Supplement: sciadv.adt0836_tables_s1_to_s6.zip › adt0836_table_s2.xlsx › Table_S2

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

Zhou Y et al.

Genes, 2024

DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.

Lei C et al.

Journal of Human Genetics, 2022

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

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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."