Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.P296L
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SDS

NM_006843.3:p.P296L

Associated Papers

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.

Delamare M et al.

Haematologica, 2023

37317877 (PubMed )
Supplement: 2023_282913_DELAMARE_SUPPL.pdf

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

Two parts of the T3S4 domain of the hook-length control protein FliK are essential for the substrate specificity switching of the flagellar type III export apparatus.

Minamino T et al.

Journal of Molecular Biology, 2006

A novel tetraspanin fusion protein, peripherin-2, requires a region upstream of the fusion domain for activity.

Damek-Poprawa M et al.

The Journal of Biological Chemistry, 2005

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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."