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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTL7A

Variant:p.I149_W150del2

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ACTL7A

NM_006687.4:p.I149_W150del2

hg38:chr9:108862766 TATCTGG>T

Associated Papers

A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns.

Zhou J et al.

Clinical Genetics, 2023

37286336 (PubMed )

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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."