Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.R153_V154Splc
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UCHL1

NM_004181.5:p.R153_V154Splc

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG79

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

McMacken G et al.

Journal of Neurology, 2020

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79.

Das Bhowmik A et al.

Journal of Human Genetics, 2018

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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."