Associated Papers
Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.
Quiroz V et al.
The Journal of Clinical Investigation, 2024
38990652 (PubMed )
Supplement: jci-134-178919-s027.pdf
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
Launay N et al.
The Journal of Clinical Investigation, 2023
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