Varaico: Literature-Extracted Genetic Variants

Gene:TOP1MT
Variant:p.R22H
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TOP1MT

NM_052963.3:p.R22H

Associated Papers

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

Doucette LP et al.

European Journal of Human Genetics : Ejhg, 2021

33776059 (PubMed )
Supplement: 41431_2021_872_MOESM2_ESM.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 985.382
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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."