Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.E117delins
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PFN1

NM_005022.4:p.E117delins

Associated Papers

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

Pottier C et al.

Acta Neuropathologica, 2015

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