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Tag: Genetics

Genotype Tied to Endovascular Therapy Outcomes in LVO Stroke

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Instant, early reocclusion more frequent in carriers of the RNF213 p.R4810K variant, found mainly in people of East Asian descent

Pathways to Advanced Age-Related Macular Degeneration Examined

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Distinct serum and genetic risks, associated systemic diseases seen with soft drusen, subretinal drusenoid deposits

Genetics May Affect Pregnancy Risk Factors for Offspring Neurodevelopmental Conditions

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Genetic liability to ADHD, schizophrenia linked to pregnancy-related factors thought to be associated with these conditions

Genomic Sequencing Enhances Findings of Hearing Loss in NICU

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Diagnosis increased with expanded genomic sequencing combined with hearing screening

113-Gene Signature May Predict Long-Term HCC Risk in NAFLD

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Prognostic liver signature validated in cohorts of patients with NAFLD, with and without history of hepatocellular carcinoma

Genetic Mutations May Help Predict Survival in Parkinson Disease

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Among patients with Parkinson disease, SNCA or GBA mutations associated with shorter survival compared with no mutations

Risk Score Developed for RA-Linked Interstitial Lung Disease

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Independent risk factors for rheumatoid arthritis (RA)-associated ILD include MUC5B rs35705950 T risk allele, male sex, older age at RA onset

Azathioprine Discontinuation Up for Patients With CC Genotype

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Patients with rs2814778-CC also have lower last leukocyte count and lower dosing; findings persist after adjustment for race

Genetic Variants in HMGCR Linked to Increased Cataract Risk

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Heterozygous carriers of HMGCR predicted loss-of-function variants had higher risks for developing cataract, cataract surgery

ASCO: Ancestry-Specific Genetic Risk Examined for TNBC

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Magnitudes of gene-specific risks for triple-negative breast cancer similar across racial/ethnic groups