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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM67

Variant:p.E452fs

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TMEM67

NM_153704.6:p.E452fs

hg38:chr8:93786288 GAA>N

Associated Papers

Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases.

Qin Y et al.

Orphanet Journal of Rare Diseases, 2025

40993696 (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."