Varaico: Literature-Extracted Genetic Variants

Gene:ELOC
Variant:p.L101fs
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ELOC

NM_005648.4:p.L101fs

Associated Papers

Novel compound heterozygous mutation in DNAH9 causes complex congenital heart disease.

Liu X et al.

Molecular Medicine Reports, 2025

40376972 (PubMed )
Supplement: Supplementary_Data2.pdf
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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."