Varaico: Literature-Extracted Genetic Variants

Gene:DNAH11
Variant:p.E40del1
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DNAH11

NM_001277115.2:p.E40del1

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10489.xls › SNVIndel

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Gopal RK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

29915083 (PubMed )
Supplement: pnas.1711888115.sd01.xlsx › Exome_Variants
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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."