Varaico: Literature-Extracted Genetic Variants

Gene:ARL6IP1
Variant:p.L31P
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ARL6IP1

NM_015161.3:p.L31P

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG61

Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.

Foronda H et al.

Nature, 2023

Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.

Cao Y et al.

Clinical Genetics, 2021

A new case of infantile-onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family.

Chukhrova AL et al.

European Journal of Neurology, 2019

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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."