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Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing
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Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing

Frontiers in pediatrics, 2023-02, Vol.11, p.1128716 [Peer Reviewed Journal]

2023 Tran, Diep, Zilong, Phuong, Tran, Van Tung, Lien, Xuan, Ha, Van Ta, Tran and Hoang. ;2023 Tran, Diep, Zilong, Phuong, Tran, Van Tung, Lien, Xuan, Ha, Van Ta, Tran and Hoang. 2023 Tran, Diep, Zilong, Phuong, Tran, Van Tung, Lien, Xuan, Ha, Van Ta, Tran and Hoang ;ISSN: 2296-2360 ;EISSN: 2296-2360 ;DOI: 10.3389/fped.2023.1128716 ;PMID: 36873642

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A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients
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Article
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A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients

Frontiers in pediatrics, 2024, Vol.12, p.1165492-1165492 [Peer Reviewed Journal]

2024 Tran, Cao, Nguyen, Le, Tran, Vu, Nguyen, Nguyen, Bui, Nguyen, Ta and Tran. ;2024 Tran, Cao, Nguyen, Le, Tran, Vu, Nguyen, Nguyen, Bui, Nguyen, Ta and Tran. 2024 Tran, Cao, Nguyen, Le, Tran, Vu, Nguyen, Nguyen, Bui, Nguyen, Ta and Tran ;ISSN: 2296-2360 ;EISSN: 2296-2360 ;DOI: 10.3389/fped.2024.1165492 ;PMID: 38415210

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