Associated Papers
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.
Mandia D et al.
Journal of Inherited Metabolic Disease, 2026
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40585076 (PubMed )
Supplement: media-2.xlsx › Table_S3
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Deep Brain Stimulation in Leigh-Like Syndrome Due to DNM1 Pathogenic Variant.
Villa-Villegas L et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
[A case of combined oxidative phosphorylation deficiency 32 caused by MRPS34 gene variation and literature review].
Shen MX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2023
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.
Nasca A et al.
Cells, 2022
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Jackson CB et al.
Human Molecular Genetics, 2019
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ et al.
American Journal of Human Genetics, 2017
A CRISPR/Cas9 Functional Screen Identifies Rare Tumor Suppressors.
Katigbak A et al.
Scientific Reports, 2016
27982060 (PubMed )
Supplement: srep38968-s2.xls › Sheet1
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