Pituitary adenoma risk factors included prior hyperparathyroidism, female sex, and non-missense pathogenic variants among patients with MEN1.
Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction of the ...
Several factors make ovarian cancer particularly challenging to treat. This is largely because the cancer often spreads at a ...
If future studies confirm the rescued receptors work normally, the study offers a new roadmap for rare disease drug development.
A study published in Nature Structural & Molecular Biology is the first time researchers have shown evidence that a single drug, already licensed for medical use, can stabilize nearly all mutated ...
A new clinical trial suggests magnesium supplements may boost gut bacteria that help block the development of colon cancer – but only for some people, depending on their genes and sex. An increase in ...
Summary: The largest exome-sequencing study of schizophrenia to date has uncovered eight new genes tied to the disorder. Two genes, STAG1 and ZNF136, were strongly implicated, while six others showed ...
Disease‐causative variants in LMNA‐encoded lamin A/C cause a genetic cardiomyopathy characterized by atrioventricular block, atrial fibrillation, ventricular arrhythmias, and systolic dysfunction. The ...
Desmosomal gene variants (DGVs) have been associated with a diverse spectrum of phenotypic manifestations within arrhythmogenic cardiomyopathy, but data on genotype-specific outcomes are lacking. We ...
Add a description, image, and links to the extract-missense-variants topic page so that developers can more easily learn about it.
School of Computer, Jiangsu University of Science and Technology, 666 Changhui Road, Zhenjiang 212100, China ...
Purpose To determine the degree to which likely causal missense variants of single-locus traits in domesticated species have features suggestive of pathogenicity in a human genomic context. Methods We ...