Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study
<b>Background:</b> Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the <i>NF1</i> gene. Although genotype–phenotype correlation studies are increasing, robust clinically relevant correlations have remained limited. <b>...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-01-01
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| Series: | Biomedicines |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9059/13/1/146 |
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