pathogenic variant - Robuta Search

https://www.preprints.org/manuscript/202409.0406 G6PD Potenza: A Novel Pathogenic Variant Broadens the Mutational Landscape in the Italian... Background: G6PD is a rate-limiting enzyme of the pentose phosphate pathway. The loss of G6PD activity in red blood cells exposes to the risk of acute... a novel pathogenic variant https://pmc.ncbi.nlm.nih.gov/articles/PMC12374290/ Increasing pathogenic germline variant diagnosis rates in precision medicine: current best... The accurate diagnosis of pathogenic variants is essential for effective clinical decision making within precision medicine programs. Despite significant... precision medicine increasing pathogenic germline variant https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1525846/full Frontiers | Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram... ContextWolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder caused by pathogenic variants in the WFS1 gene. It is characterized by cent... https://www.mdpi.com/2072-6694/14/23/5769 Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to BRCA Pathogenic Variant... Over the past years, BRCA genes pathogenic variants have been associated to reproductive issues. Indeed, evidence indicate that BRCA-mutated patients are not... genetic testing https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/conference-presentations/2020/frequency-of-5-cancer-types-in-families-with-a-pathogenic- Frequency of 5 Cancer Types in Families with a Pathogenic or Likely Pathogenic Variant in the ATM... Conference presentation with the title "Frequency of 5 Cancer Types in Families with a Pathogenic or Likely Pathogenic Variant in the ATM Gene" presented at... https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1536000/full Frontiers | Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G T)... BackgroundCongenital eyelid coloboma (CEC) is a rare genetic disease, manifesting as a congenital partial or total defect of the eyelid. In this study, we re... https://pmc.ncbi.nlm.nih.gov/articles/PMC12597093/ Prenatal diagnosis of a de novo pathogenic HNRNPK variant in a Chinese fetus with abnormal... Heterozygous pathogenic variants in HNRNPK cause Au-Kline syndrome (AUKS), a neurodevelopmental disorder characterized by congenital anomalies and... https://www.preprints.org/manuscript/202507.2240 A Novel Pathogenic Variant of the AVPR2 Gene Leading to Arginine Vasopressin Resistance from the... Diabetes insipidus (DI) in newborn is an extremely rare condition, simultaneously the age of presentation is a strong suggestion of genetic background of... https://pmc.ncbi.nlm.nih.gov/articles/PMC9289853/ A new pathogenic POLG variant - PMC POLG gene mutations are the most common causes of inherited mitochondrial disorders. The enzyme produced by this gene is responsible for the replication and... a new pathogenic polg variant pmc https://boku.ac.at/docservice/doktoratsstudien/doktoratsschulen/agrigenomics/research/projects/histovar-role-of-the-histone-variant-h2az-in-pathogenic-fusarium-species HISTOVAR: Role of the histone variant H2A.Z in pathogenic Fusarium species::BOKU https://pmc.ncbi.nlm.nih.gov/articles/PMC12266137/ Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult... Adult polyglucosan body disease (APBD) is a rare, adult-onset neurodegenerative disorder caused by loss-of-function variants in the glycogen branching enzyme... antisense oligonucleotides splice modulating targeting https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/conference-presentations/2021/frequency-of-5-cancer-types-in-families-with-a-pathogenic-or-likely-pathogenic-variant-in-atm-gene Frequency of 5 Cancer Types in Families with a Pathogenic or Likely Pathogenic Variant in the ATM... Conference presentation with the title "Frequency of 5 Cancer Types in Families with a Pathogenic or Likely Pathogenic Variant in the ATM Gene" presented at... https://www.wikidata.org/wiki/Q57892870 Prognostic impact ofBRCA1 pathogenic andBRCA1/BRCA2 unclassified variant mutations in patients with... prognostic impact