Search Results - "Žukauskaitė, Gabrielė"
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Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis
Published in Medicina (Kaunas, Lithuania) (30-01-2024)“…Hereditary transthyretin amyloidosis (ATTRv) is a rare disease caused by pathogenic variants in the transthyretin ( ) gene. More than 140 different…”
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Rare c.302CT ITTR/I Variant Associated with Transthyretin Amyloidosis
Published in Medicina (Kaunas, Lithuania) (01-01-2024)“…Background and Objectives: Hereditary transthyretin amyloidosis (ATTRv) is a rare disease caused by pathogenic variants in the transthyretin (TTR) gene. More…”
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Putative protective genomic variation in the Lithuanian population
Published in Genetics and molecular biology (01-01-2024)“…Genomic effect variants associated with survival and protection against complex diseases vary between populations due to microevolutionary processes. The aim…”
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Identifying Genomic Signatures of Positive Selection to Predict Protective Genomic Loci in the Cohort of Lithuanian Clean-Up Workers of the Chornobyl Nuclear Disaster
Published in Current issues in molecular biology (01-04-2023)“…Some people resist or recover from health challenges better than others. We studied Lithuanian clean-up workers of the Chornobyl nuclear disaster (LCWC) who…”
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Causes of preterm birth: Genetic factors in preterm birth and preterm infant phenotypes
Published in The journal of obstetrics and gynaecology research (01-03-2023)“…Aim The aim is to provide an overview of recent research on genetic factors that influence preterm birth in the context of neonatal phenotypic assessment…”
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Psychological distress 35 years after the Chornobyl accident in the Lithuanian clean-up workers
Published in Global health action (31-12-2023)“…The adverse effects on the health of the Chornobyl nuclear power plant accident clean-up workers have been reported previously. However, there is a lack of…”
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Comparison of the ABC and ACMG systems for variant classification
Published in European journal of human genetics : EJHG (22-05-2024)“…The ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases…”
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Possible Protective Effect of LOXL1 Variant in the Cohort of Chernobyl Catastrophe Clean-Up Workers
Published in Genes (10-08-2021)“…Ionising radiation (IR) is an environmental factor known to alter genomes and therefore challenge organisms to adapt. Lithuanian clean-up workers of the…”
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