Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.K139_G140Splc
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REEP1

NM_001371279.1:p.K139_G140Splc

Associated Papers

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.

Özdemir TR et al.

Annals of Indian Academy of Neurology, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG31

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

Wu C et al.

Annals of Clinical and Translational Neurology, 2022

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.

Ma X et al.

Frontiers in Neurology, 2020

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Dong EL et al.

Molecular Neurodegeneration, 2018

29980238 (PubMed )
Supplement: 13024_2018_269_MOESM1_ESM.xlsx › Table_S1
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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."