Varaico: Literature-Extracted Genetic Variants

Gene:HTT
Variant:p.D523N
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HTT

NM_001388492.1:p.D523N

Associated Papers

The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions.

Richard GF

Cells, 2021

Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection.

Roy JCL et al.

Nucleic Acids Research, 2021

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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."