Genes Behind a Rare Heart-Filling Disorder Point Toward Personalized Care
Whole-exome sequencing of 568 cardiomyopathy patients found pathogenic variants in nearly three-quarters of those with restrictive filling physiology, with MYBPC3, ...
Tag: genotype-phenotype
Genomics Moves From Variant Discovery to Precision Diagnosis Across Rare and Common Disease
A sweeping editorial on a 2024–2025 research collection describes how long-read sequencing, newborn screening, population genomics, and functional studies are ...
NLGN4X Gene Variants Reveal Dual Roles in Synapses and Brain Development
New research indicates that pathogenic variants in the NLGN4X gene disrupt both synaptic connectivity and cortical development, offering a broader ...
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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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