Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a “Quasi-Incomplete” NF1 phenotype Article Swipe

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Claudia Santoro , Rosa Boccia , Claudio Iovino , Giulio Piluso , Silverio Perrotta , Francesca Simonelli ·

YOU? · · 2022 · Open Access · · DOI: https://doi.org/10.1038/s41431-022-01236-1

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Substitution (logic) Phenotype Genetics Amino acid substitution Biology Medicine Mutation Gene Philosophy Linguistics

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Type: article
Language: en
Landing Page: https://doi.org/10.1038/s41431-022-01236-1
OA Status: green
Cited By: 2
References: 9
Related Works: 10
OpenAlex ID: https://openalex.org/W4309444875

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OpenAlex ID: https://openalex.org/W4309444875

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DOI: https://doi.org/10.1038/s41431-022-01236-1

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Title: Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a “Quasi-Incomplete” NF1 phenotype

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Type: article

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Language: en

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Publication year: 2022

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Publication date: 2022-11-21

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Authors: Claudia Santoro, Rosa Boccia, Claudio Iovino, Giulio Piluso, Silverio Perrotta, Francesca Simonelli

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Landing page: https://doi.org/10.1038/s41431-022-01236-1

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Open access: Yes

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OA status: green

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OA URL: https://www.ncbi.nlm.nih.gov/pmc/articles/9905567

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Concepts: Substitution (logic), Phenotype, Genetics, Amino acid substitution, Biology, Medicine, Mutation, Gene, Philosophy, Linguistics

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Cited by: 2

Total citation count in OpenAlex
Citations by year (recent): 2025: 1, 2023: 1

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References (count): 9

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Related works (count): 10

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primary_location.is_accepted	True
primary_location.is_published	True
primary_location.raw_source_name	European Journal of Human Genetics
primary_location.landing_page_url	https://doi.org/10.1038/s41431-022-01236-1
publication_date	2022-11-21
publication_year	2022
referenced_works	https://openalex.org/W3163203868, https://openalex.org/W1521802642, https://openalex.org/W2055947086, https://openalex.org/W2163563652, https://openalex.org/W2067079655, https://openalex.org/W1559243611, https://openalex.org/W3157687996, https://openalex.org/W2521096974, https://openalex.org/W2094770792
referenced_works_count	9
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corresponding_author_ids	https://openalex.org/A5035634927, https://openalex.org/A5018298964
countries_distinct_count	1
institutions_distinct_count	6
corresponding_institution_ids	https://openalex.org/I197809005
sustainable_development_goals[0].id	https://metadata.un.org/sdg/2
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sustainable_development_goals[0].display_name	Zero hunger
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