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Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health recordsFRONTIERS IN MOLECULAR BIOSCIENCESIF42024-10-010OAAI
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Ajay Kumar Parida (1963-2022), an eminent plant biotechnologist with a passion for mangrove biologyPHYSIOLOGY AND MOLECULAR BIOLOGY OF PLANTSIF3.32023-09-110PRE
Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation PathwaysFRONTIERS IN MOLECULAR BIOSCIENCESIF42022-02-256OAAI
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndromeSCIENTIFIC REPORTSIF3.92018-01-2511OAAI
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvementORPHANET JOURNAL OF RARE DISEASESIF3.52016-10-2115OAAI
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