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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CP

Variant:p.V246_D252insFs

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CP

NM_000096.4:p.V246_D252insFs

hg38:chr3:149209236 G>GTCTTCGTTGTCTTTGTCAAC

Associated Papers

Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.

Aprea I et al.

Frontiers in Genetics, 2023

36873931 (PubMed )

Supplement: DataSheet1.docx

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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."