Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.I53M
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NIPA1

NM_144599.5:p.I53M

Associated Papers

TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Martinez-Lage M et al.

Acta Neuropathologica, 2012

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.

Du J et al.

Clinical Neurology and Neurosurgery, 2011

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.

Chen S et al.

Human Mutation, 2005

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

Rainier S et al.

American Journal of Human Genetics, 2003

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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."