Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation—Family Case Report and Review of the Literature

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Published in:Life (Basel) 2022, Vol.12 (12)
Main Authors: Marcu, Andreea Sorina, Vătăşescu, Radu, Onciul, Sebastian, Rădoi, Viorica, Jurcuţ, Ruxandra
Format: Report
Language:English
Subjects:
Case studies
Diagnosis
Gene mutations
Genetic aspects
Genetic disorders
Heart enlargement
Phenotype
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container_issue 12
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container_title Life (Basel)
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creator Marcu, Andreea Sorina
Vătăşescu, Radu
Onciul, Sebastian
Rădoi, Viorica
Jurcuţ, Ruxandra
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doi_str_mv 10.3390/life12122136
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source Open Access: PubMed Central; Publicly Available Content (ProQuest)
subjects Case studies
Diagnosis
Gene mutations
Genetic aspects
Genetic disorders
Heart enlargement
Phenotype
title Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation—Family Case Report and Review of the Literature
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