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February 20, 2024Open Access

The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review

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AJAurora JurcaCPCodruța Diana PetcheșiCJClaudia Jurcă

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Jurca et al. (2024) studied this question.

synapsesocial.com/papers/68e786ffb6db6435876f9bc7https://doi.org/10.20944/preprints202402.1140.v1
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Also Consider

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  1. 1The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies2017 · 1,430 citations
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  3. 3Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 12019 · 138 citations
  4. 4Choroidal abnormalities in neurofibromatosis type 1 detected by near‐infrared reflectance imaging in paediatric population2015 · 52 citations