Varaico: Literature-Extracted Genetic Variants

Gene:TMEM67
Variant:p.E814*
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TMEM67

NM_153704.6:p.E814*

Associated Papers

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

Taniguchi K et al.

Molecular Genetics & Genomic Medicine, 2025

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