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News tagged with rare variants

Genetic variations may predispose people to Parkinson's disease following long-term pesticide exposure, study finds

Apr 25, 2024

Researchers discover cause of a new rare genetic condition: Glutamine synthetase stabilization disorder

Apr 15, 2024

YKT6 gene variants cause a new neurological disorder, finds study

Apr 2, 2024

Researchers uncover key genetic clue in adolescent idiopathic scoliosis

Feb 20, 2024

Researchers conduct in-depth characterization of a major gene involved in neurodegenerative diseases

Jan 16, 2024

Criteria for better assessment of rare genetic variants that can lead to hereditary colorectal cancer

Dec 7, 2023

A rare genetic spotlight on health disparities for inflammatory bowel disease

Nov 15, 2023

A large international study of migraine reveals new biological pathways for treatment

Oct 26, 2023

AI-based tool leverages diverse data sources for a new approach to rare disease diagnosis

Oct 10, 2023

Connections between rare genetic changes and blood proteins to shape current and future drug discovery

Oct 9, 2023
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