Kallmann family study finds PROK2 upregulation with uncertain ANOS1 variant
A study of two Polish brothers with Kallmann syndrome identified an uncertain-significance ANOS1 variant and concordant PROK2 upregulation in blood, ...
Tag: variant
Lab assays and AI predictors join forces to classify cancer variants fairly across ancestries
Every year, thousands of people who undergo genetic testing for hereditary cancer risk receive a result that is neither reassuring ...
Novel de novo CDKL5 variant identified in Iranian child with refractory epilepsy
Deep in the landscape of rare childhood epilepsy, a single genetic letter change can rewrite a child's life. Researchers in ...
Hidden RNA splice variant drives colorectal cancer spread, study finds
A tumor-specific splice variant of CALD1, driven by the splicing factor hnRNPA1 and acting through the motor protein MYH9, promotes ...
De Novo TCF20 Variant Linked to Generalized Dystonia With Cervical Predominance
A 23-year-old woman with generalized dystonia dominated by cervical involvement carried a de novo TCF20 loss-of-function variant, expanding the clinical ...
Two Sisters Under 25 With Colorectal Cancer: A Mitochondrial Gene Variant Raises New Questions
A Chinese family in which two sisters developed colorectal cancer before 25 carries a known pathogenic SDHB variant, but molecular ...
When One Gene Means Many Diseases: Multi-Disorder Genes Drive Lab Disagreement on Variant Pathogenicity
A national study of 128 clinical genetics laboratories finds that variants in multi-disease genes such as APOB, LZTR1, MYH7, and ...
AI Language Model Redesigns Hemoglobin for Stronger Oxygen Binding
Using the ESM3 protein language model, researchers engineered a hemoglobin variant with enhanced stability, heme binding, and oxygen affinity, validated ...
Rare Gene Mutation Rewires Developmental Programs in Alazami Syndrome, Revealing Cardiac Risk
In a finding that could reshape how clinicians think about one of the rarest neurodevelopmental disorders on record, a team ...
Rare Genetic Disorder Diagnosed in Adult Woman After Lifelong Illness
A 33-year-old Palestinian woman who spent her life battling recurrent severe chest infections, kidney stones, and unexplained growth failure has ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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