Koczkowska, Magdalena <br/><br/>
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.  [electronic resource] 

 -  American journal of human genetics  01 2018 
 - 69-87 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2017.12.001  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acid Sequence<br/>Child<br/>Codon--genetics<br/>Cohort Studies<br/>Computer Simulation<br/>Demography<br/>Female<br/>Genetic Association Studies<br/>Heterozygote<br/>Humans<br/>Male<br/>Mutation, Missense--genetics<br/>Neurofibromatosis 1--genetics<br/>Neurofibromin 1--chemistry<br/>Phenotype<br/>Young Adult