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Article

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

The Journal of clinical investigation - 11 Jul 2024

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

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38990652
DOI: 10.1172/JCI178919
PMCID: PMC11364375

Genes

RINT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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