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Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) (OMIM 618278) is a rare infantile-onset disease caused by variants in NHL repeat containing 2 (NHLRC2) gene. NHLRC2 is essential for mouse gastrulation (Hiltunen et al., 2022). Here, RNA sequencing was performed on four wild type (WT), f...
ORGANISM(S): Mus musculus 

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS833 | MetaboLights
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