Varaico: Literature-Extracted Genetic Variants

Gene:ZFYVE26
Variant:p.Q493*
Back to variants list

ZFYVE26

NM_015346.4:p.Q493*

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG15

Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26.

Lai ZH et al.

Frontiers in Neurology, 2023

37681008 (PubMed )
Supplement: Data_Sheet_1.xlsx › Sheet1

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.

Boukhris A et al.

Clinical Genetics, 2009

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

Hanein S et al.

American Journal of Human Genetics, 2008

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."