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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEPTIN12

Variant:p.A206fs

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SEPTIN12

NM_144605.5:p.A206fs

hg38:chr16:4783663 GGC>N

Associated Papers

A novel SEPT12 mutation, T96I, is associated with sperm head and annulus defects.

Chen KR et al.

Frontiers in Cell and Developmental Biology, 2024

39850804 (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."