Varaico: Literature-Extracted Genetic Variants

Gene:TDP1
Variant:p.R304*
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TDP1

NM_018319.4:p.R304*

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Genetic Homogeneity of a TDP1 Variant, c.1478A>G, as the Main Disease-Causing Variant of Spinocerebellar Ataxia With Axonal Neuropathy 1 (SCAN1) in the Middle East: A Systematic Review.

Mohammadi M et al.

Pediatric Neurology, 2025

A genomics approach to male infertility.

Alhathal N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 580.240
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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."