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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RSPH9

Variant:p.G246_A252insFs

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RSPH9

NM_152732.5:p.G246_A252insFs

hg38:chr6:43670853 G>GGGCCTCACCTTCTACCATGC

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."