Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a 'Quasi-Incomplete' NF1 phenotype
العنوان: | Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a 'Quasi-Incomplete' NF1 phenotype |
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المؤلفون: | Claudia Santoro, Rosa Boccia, Claudio Iovino, Giulio Piluso, Silverio Perrotta, Francesca Simonelli |
المساهمون: | Santoro, Claudia, Boccia, Rosa, Iovino, Claudio, Piluso, Giulio, Perrotta, Silverio, Simonelli, Francesca |
المصدر: | European Journal of Human Genetics. 31:136-137 |
بيانات النشر: | Springer Science and Business Media LLC, 2022. |
سنة النشر: | 2022 |
مصطلحات موضوعية: | Genetics, Genetics (clinical) |
تدمد: | 1476-5438 1018-4813 |
الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7d8eac2f6ddd983909155b5491474bTest https://doi.org/10.1038/s41431-022-01236-1Test |
حقوق: | CLOSED |
رقم الانضمام: | edsair.doi.dedup.....3a7d8eac2f6ddd983909155b5491474b |
قاعدة البيانات: | OpenAIRE |
تدمد: | 14765438 10184813 |
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