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Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar

medRxiv(2024)10.1101/2024.11.24.24317862Source: DataRank Database

Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar is a research paper published in medRxiv (2024). On theSindex it has a DataRank of 0. It has been cited 2 times.

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Open Access2 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (1 grants)OA: greenTopics (26)IDs (PubMed, OpenAlex)SDGs (1)

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Authors (16)

Gabriel Maldonado-Velez ORCID,Rajiv D. Machado ORCID,Srimmitha Balachandar ORCID,Florence Coulet ORCID,Kristina Day ORCID

Live enrichment

PubMed:39649591 OpenAlex:https://openalex.org/W4404731638

National Institutes of Health

Grant: 5R35HL140019-06

Genomics of Pulmonary Vascular Disease

greenLicense: CC BY

repositoryhttps://www.medrxiv.org/content/medrxiv/early/2024/11/26/2024.11.24.24317862.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2024.11.24.24317862

repositoryhttp://dx.doi.org/10.1101/2024.11.24.24317862

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39649591

Fields of Study

Pulmonary Hypertension Research and TreatmentsMedical Imaging and Pathology StudiesInterstitial Lung Diseases and Idiopathic Pulmonary Fibrosis0303 health sciences03 medical and health sciences

Keywords

BMPR2Consistency (knowledge bases)BioinformaticsMedicineComputational biologyInternal medicineBiologyGeneticsGeneComputer scienceBone morphogenetic proteinPulmonary Arterial HypertensionHypertension, PulmonaryRNA SplicingMutationPractice Guidelines as TopicHumansGenetic VariationGenetic Predisposition to DiseaseBone Morphogenetic Protein Receptors, Type IIResearch Article

Sustainable Development Goals

SDG 0: Partnerships for the goals