Published April 14, 2021
| Version v1
Dataset
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Data related to article "Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1"
Description
Clinical characteristics of patients affected by neurofibromatosis type 1 carrying missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423
Notes
Study supported by italian Ministry of Health - grant RF2016-0236293
Files
Eoli_p.Met1149, p.Arg1276, and p.Lys1423.zip
Additional details
Related works
- Is supplement to
- Journal article: 10.1002/humu.23929 (DOI)