Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.L391_A392Splc
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SPAST

NM_014946.4:p.L391_A392Splc

Associated Papers

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.

Wang XC et al.

Molecular Medicine Reports, 2023

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

Braschinsky M et al.

Bmc Neurology, 2010

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