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MetabolomicsImpacts of the Callipyge mutation on ovine plasma metabolites
The ovine Callipyge mutation causes postnatal muscle hypertrophy localized to the pelvic limbs and torso, as well as body leanness. The mechanism underpinning enhanced muscle mass is unclear, as is the systemic impact of the mutation. To investigate potential systemic effects of the mutation, 1H NMR...
2015-01-31 | MTBLS77 | MetaboLights
UnknownDNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes...
S-EPMC11866971 | biostudies-literature
UnknownComprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research group...
S-EPMC11513043 | biostudies-literature
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