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UnknownCase Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Not available
S-EPMC8085550 | biostudies-literature
UnknownA novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta.
Not available
S-EPMC8339231 | biostudies-literature
UnknownAlterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors.
Not available
S-EPMC4724172 | biostudies-literature
UnknownPrognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Not available
S-EPMC10742680 | biostudies-literature
UnknownBi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Not available
S-EPMC10086588 | biostudies-literature
UnknownBiallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Not available
S-EPMC10786703 | biostudies-literature
UnknownInvestigating the role of ASCC1 in the causation of bone fragility.
Not available
S-EPMC10348481 | biostudies-literature
UnknownAlternative lengthening of telomere-based immortalization renders H3G34R-mutant diffuse hemispheric glioma hypersensitive to PARP inhibitor combination regimens.
Not available
S-EPMC11889718 | biostudies-literature
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