Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.K502*
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SPAST

NM_014946.4:p.K502*

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Novel somatic alterations underlie Chinese papillary thyroid carcinoma.

Yang C et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

32065787 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-191200.xlsx › Table_S5

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Ishiura H et al.

Journal of Human Genetics, 2016

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Ishiura H et al.

Journal of Human Genetics, 2014

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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."