Varaico: Literature-Extracted Genetic Variants

Gene:SHMT1
Variant:p.H18L
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SHMT1

NM_004169.5:p.H18L

Associated Papers

Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method.

Gilmozzi V et al.

Stem Cell Research, 2022

Steady-State Kinetics of α-Synuclein Ferrireductase Activity Identifies the Catalytically Competent Species.

McDowall JS et al.

Biochemistry, 2017

Controlling aggregation propensity in A53T mutant of alpha-synuclein causing Parkinson's disease.

Kumar S et al.

Biochemical and Biophysical Research Communications, 2009

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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."