Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.L112L
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PFN1

NM_005022.4:p.L112L

Associated Papers

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Zhou B et al.

Brain and Behavior, 2020

32307925 (PubMed )
Supplement: BRB3-10-e01625-s002.xlsx › RawData

PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis.

Chen Y et al.

Neurobiology of Aging, 2013

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.

Lattante S et al.

Neurobiology of Aging, 2013

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.

Tiloca C et al.

Neurobiology of Aging, 2013

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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."