Varaico: Literature-Extracted Genetic Variants

Gene:IFRD1
Variant:p.P2A
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IFRD1

NM_001550.4:p.P2A

Associated Papers

Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.

Lin P et al.

Journal of Human Genetics, 2018

Isolated palatal tremor as unique clinical manifestation of SCA 18 due to a new mutation of IFRD1.

Echeveste B et al.

Parkinsonism & Related Disorders, 2017

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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."