Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.K250Q
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NIPA1

NM_144599.5:p.K250Q

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG6

Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.

Fang SY et al.

Annals of Clinical and Translational Neurology, 2023

Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6.

Fu J et al.

Frontiers in Genetics, 2022

Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.

Zhao M et al.

Molecular Diagnosis & Therapy, 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."