Varaico: Literature-Extracted Genetic Variants

Gene:ZFYVE26
Variant:p.I508N
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ZFYVE26

NM_015346.4:p.I508N

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

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

Kancheva D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

Martinuzzi A et al.

Plos One, 2016

27077743 (PubMed )
Supplement: pone.0153283.s002.pdf

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V et al.

Brain : a Journal of Neurology, 2014

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.

Vantaggiato C et al.

Brain : a Journal of Neurology, 2013

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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."