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UnknownNovel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
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S-EPMC7707637 | biostudies-literature
UnknownDe Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
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S-EPMC6451695 | biostudies-literature
UnknownThe clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry.
Not available
S-EPMC6059141 | biostudies-literature
UnknownPathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Not available
S-EPMC12597829 | biostudies-literature
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