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UnknownMitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.
Not available
S-EPMC12256788 | biostudies-literature
ProteomicsExome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a sev...
ORGANISM(S): Homo sapiens (Human) 
2022-02-16 | PXD023584 | Pride
Proteogenomics Pch1 Solve-rd Exome reanalysis Trip4 
GenomicsSolve-RD Solving the Unsolved Rare Dieseases
Solve-RD – solving the unsolved rare diseases is a research project funded by the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257 from 1 January 2018 to 31 March 2024. Six European Reference Networks (ERNs; ERN-RND, -ITHACA, -EuroNMD, -GENTUR...
EGAS00001003851 | EGA
UnknownSolving unsolved rare neurological diseases-a Solve-RD viewpoint.
Not available
S-EPMC8440537 | biostudies-literature
GenomicsSolve RD DAC
Data Access Committee EGAC00001001319
EGAC00001001319 | EGA
UnknownUnraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Not available
S-EPMC12047270 | biostudies-literature
UnknownModel matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).
Not available
S-EPMC11216991 | biostudies-literature
Genomics2688cf98-ef45-42a1-8775-96ee41cc41ff - samples
Solve-RD data submitted to the ERN-EuroNMD cohort for re-analysis (Data freeze 1+2) v1
EGAD00001009768 | EGA
Genomics09a237f6-013a-48ed-9935-541ac1f3210d - samples
Solve-RD data submitted to the ERN-ITHACA cohort for re-analysis (Data freeze 1+2) v1
EGAD00001009770 | EGA
Genomics48e21730-93eb-4fcd-a9db-f653268a955c - samples
Solve-RD data submitted to the ERN-RND cohort for re-analysis (Data freeze 1+2) v1
EGAD00001009769 | EGA
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