Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G471_V472Splc
Back to variants list

SPAST

NM_014946.4:p.G471_V472Splc

Associated Papers

Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.

Choi Y et al.

Yonsei Medical Journal, 2026

41431411 (PubMed )
Supplement: ymj-67-34-s001.pdf

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Genetic etiology of progressive pediatric neurological disorders.

Aaltio J et al.

Pediatric Research, 2024

37563452 (PubMed )
Supplement: 41390_2023_2767_MOESM1_ESM.pdf

Pure or Complex Hereditary Spastic Paraplegia Type 4?

Finsterer J

Journal of Clinical Neurology (seoul, Korea), 2019

Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia.

Yang J et al.

Journal of Clinical Neurology (seoul, Korea), 2019

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

Park H et al.

Journal of the Neurological Sciences, 2015

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."