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UnknownConvert your favorite protein modeling program into a mutation predictor: "MODICT".
Not available
S-EPMC5070100 | biostudies-literature
UnknownPolyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.
Not available
S-EPMC4817896 | biostudies-literature
UnknownThe active FMR1 promoter is associated with a large domain of altered chromatin conformation with embedded local histone modifications.
Not available
S-EPMC1567902 | biostudies-literature
UnknownNovel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis.
Not available
S-EPMC8244262 | biostudies-literature
UnknownOocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.
Not available
S-EPMC11950555 | biostudies-literature
UnknownTranscriptional profiling reveals glucose-dependent regulation of <i>COL13A1</i> mRNA in Pompe patients: Prospect for a novel disease mechanism.
Not available
S-EPMC12495276 | biostudies-literature
UnknownHeterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Not available
S-EPMC6439326 | biostudies-literature
UnknownEDIR: exome database of interspersed repeats.
Not available
S-EPMC9805566 | biostudies-literature
UnknownSertoli Cell-Only Syndrome: Behind the Genetic Scenes.
Not available
S-EPMC4746273 | biostudies-literature
UnknownEffect of Different Nutritional Supplements on Glucose Response of Complete Meals in Two Crossover Studies.
Not available
S-EPMC9268658 | biostudies-literature
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