Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.A425P
Back to variants list

SPAST

NM_014946.4:p.A425P

Associated Papers

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

Limited sensitivity of somatosensory evoked potentials as disease monitoring biomarkers in hereditary spastic paraplegias.

Spengler FAM et al.

Plos One, 2025

41218046 (PubMed )
Supplement: pone.0335187.s003.xlsx › Planilha1

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Giordani GM et al.

Scientific Reports, 2021

34782662 (PubMed )
Supplement: 41598_2021_1635_MOESM2_ESM.xlsx › Plan1

De novo SPAST mutations may cause a complex SPG4 phenotype.

Schieving JH et al.

Brain : a Journal of Neurology, 2019

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

Jacinto-Scudeiro LA et al.

Frontiers in Neurology, 2019

31231294 (PubMed )
Supplement: Table_1.DOCX

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

Burguez D et al.

Journal of the Neurological Sciences, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."