Literature DB >> 34709357

Error in Classification of Variants.

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Abstract

Entities:  

Year:  2021        PMID： 34709357      PMCID： PMC8554688          DOI： 10.1001/jamaophthalmol.2021.4737

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN： 2168-6165            Impact factor:   7.389


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  2 in total

1.  Challenges of Phenotype-Genotype Correlations in Rare Diseases-Reply.

Authors:  Vasily M Smirnov; Christina Zeitz; Isabelle Audo
Journal:  JAMA Ophthalmol       Date:  2021-12-01       Impact factor: 7.389

2.  Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.

Authors:  Vasily M Smirnov; Marco Nassisi; Cyntia Solis Hernandez; Cécile Méjécase; Said El Shamieh; Christel Condroyer; Aline Antonio; Isabelle Meunier; Camille Andrieu; Sabine Defoort-Dhellemmes; Saddek Mohand-Said; José-Alain Sahel; Isabelle Audo; Christina Zeitz
Journal:  JAMA Ophthalmol       Date:  2021-03-01       Impact factor: 7.389
  2 in total

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