Associated Papers
Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction.
Aoki T et al.
Journal of Human Genetics, 2026
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
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5
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