Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia
Vicente Quiroz, … , Erik A. Eklund, Darius Ebrahimi-Fakhari
Vicente Quiroz, … , Erik A. Eklund, Darius Ebrahimi-Fakhari
Published July 11, 2024
Citation Information: J Clin Invest. 2024;134(17):e178919. https://doi.org/10.1172/JCI178919.
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Research Letter Genetics Neuroscience

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

Abstract

Authors

Vicente Quiroz, Laura Planas-Serra, Abigail Sveden, Amy Tam, Hyo-Min Kim, Umar Zubair, Dario Resch, Afshin Saffari, Matt C. Danzi, Stephan Züchner, Maya Chopra, Luca Schierbaum, Aurora Pujol, Erik A. Eklund, Darius Ebrahimi-Fakhari

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