Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.P24R
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C9orf72

NM_018325.5:p.P24R

Associated Papers

The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Davidson JM et al.

Neurobiology of Disease, 2022

In silico analysis of PFN1 related to amyotrophic lateral sclerosis.

Pereira GRC et al.

Plos One, 2019

Rab-dependent cellular trafficking and amyotrophic lateral sclerosis.

Parakh S et al.

Critical Reviews in Biochemistry and Molecular Biology, 2018

Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum.

Shahheydari H et al.

Frontiers in Molecular Neuroscience, 2017

Mutations of Profilin-1 Associated with Amyotrophic Lateral Sclerosis Promote Aggregation Due to Structural Changes of Its Native State.

Del Poggetto E et al.

Acs Chemical Biology, 2015

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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."