Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.P221L
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NIPA1

NM_144599.5:p.P221L

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

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.

Blauw HM et al.

Human Molecular Genetics, 2012

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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."