Varaico: Literature-Extracted Genetic Variants

Gene:TOP1MT
Variant:p.R344C
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TOP1MT

NM_052963.3:p.R344C

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM8_ESM.xlsx › Deleterious_variants

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Gahl WA et al.

Molecular Genetics and Metabolism, 2016

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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."