Literature DB >> 29521444

The D313Y genotype-Pathogenic mutation or polymorphism?

D Oder1, C Wanner1, P Nordbeck1.   

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Year:  2018        PMID： 29521444     DOI： 10.1111/cge.13237

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

Review 1.  Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.

Authors:  Carmen Muntean; Iuliana Magdalena Starcea; Cristina Stoica; Claudia Banescu
Journal:  Front Pediatr       Date:  2022-06-01       Impact factor: 3.569

2.  Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly).

Authors:  Kolja Lau; Nurcan Üçeyler; Tereza Cairns; Lora Lorenz; Claudia Sommer; Magnus Schindehütte; Kerstin Amann; Christoph Wanner; Peter Nordbeck
Journal:  Mol Genet Genomic Med       Date:  2022-02-25       Impact factor: 2.473
  2 in total

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