Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.M26L
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PARK7

NM_007262.5:p.M26L

Associated Papers

Impact of Single Amino Acid Substitutions in Parkinsonism-Associated Deglycase-PARK7 and Their Association with Parkinson's Disease.

Anjum F et al.

Journal of Personalized Medicine, 2022

35207708 (PubMed )
Supplement: jpm-12-00220-s001.zip › jpm-1518127-supplementary.pdf

Structural Biology of the DJ-1 Superfamily.

Smith N et al.

Advances in Experimental Medicine and Biology, 2017

Transient sampling of aggregation-prone conformations causes pathogenic instability of a parkinsonian mutant of DJ-1 at physiological temperature.

Milkovic NM et al.

Protein Science : a Publication of the Protein Society, 2015

Structural impact of three Parkinsonism-associated missense mutations on human DJ-1.

Lakshminarasimhan M et al.

Biochemistry, 2008

Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.

Clark LN et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2004

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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."