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Homozygous and heterozygous penetrance of a missense CASQ2 variant in a South Asian family

HeartRhythm Case Reports(2025)10.1016/j.hrcr.2025.06.021Source: DataRank Database

Homozygous and heterozygous penetrance of a missense CASQ2 variant in a South Asian family is a research paper published in HeartRhythm Case Reports (2025). On theSindex it has a DataRank of 0.

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (1 grants)Impact (FWCI 0.00)OA: goldTopics (22)IDs (PubMed, PMC, OpenAlex)Annotations (2)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (3)

Sara Cherny ORCID,Gregory Webster ORCID,Muhammad Mohsin ORCID

Live enrichment

PubMed:41333935 PMC:PMC12666932 OpenAlex:https://openalex.org/W4411605127

National Heart Lung and Blood Institute

Grant: R01 HL164773

FWCI

0.00

Citation Percentile

0.1%

goldLicense: cc-by-nc-nd

journalhttps://www.heartrhythmcasereports.com/action/showPdf?pii=S2214027125001897

publisherhttps://www.heartrhythmcasereports.com/action/showPdf?pii=S2214027125001897

publisherhttps://api.elsevier.com/content/article/PII:S2214027125001897?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S2214027125001897?httpAccept=text/plain

journalhttps://doi.org/10.1016/j.hrcr.2025.06.021

Fields of Study

Hereditary Neurological DisordersGenomics and Rare DiseasesWnt/β-catenin signaling in development and cancer

Keywords

PenetranceMissense mutationMedicineGeneticsHeterozygote advantageCompound heterozygosityMutationInternal medicineGenotypeGenePhenotypeBiologyArrhythmiaSyncopeSudden Cardiac DeathCatecholaminergic Polymorphic Ventricular TachycardiaHeterozygousCasq2Calsequestrin 2

Sustainable Development Goals

SDG 0: Gender equality