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

Journal article

Peer reviewed

Vicente Quiroz, Laura Planas-Serra, Abigail Sveden, Amy Tam, Hyo-Min Kim, Umar Zubair, Dario Resch, Afshin Saffari, Matt C. Danzi, Stephan Zuchner, …

The Journal of clinical investigation, Vol.134(17)

2024-09-01

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Title: Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia
Creators: Vicente Quiroz
Laura Planas-Serra
Abigail Sveden
Amy Tam
Hyo-Min Kim
Umar Zubair
Dario Resch
Afshin Saffari
Matt C. Danzi
Stephan Zuchner
Maya Chopra
Luca Schierbaum
Aurora Pujol
Erik A. Eklund
Darius Ebrahimi-Fakhari
Publication Details: The Journal of clinical investigation, Vol.134(17)
Publisher: American Society for Clinical Investigation
Academic Unit: Leadership Department; Miller School of Medicine; John P. Hussman Institute for Human Genomics
Language: English
Resource Type: Journal article
Record Identifier: 991032904193502976