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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AHI1

Variant:p.M729fs

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AHI1

NM_001134831.2:p.M729fs

hg38:chr6:135433108 CAT>N

Associated Papers

Prenatal diagnosis of Joubert syndrome: A case report.

Yen VTH

Radiology Case Reports, 2024

39165313 (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."