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RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
J Clin Invest. 2023 Jul 17;133(14):e162836. doi: 10.1172/JCI162836.
J Clin Invest. 2023.
PMID: 37463447
Free PMC article.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A.
Schlüter A, et al.
Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2.
Genome Med. 2023.
PMID: 37679823
Free PMC article.
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