Premium
Neurofibromatosis Type 1 Without Neurofibromas: Genotype‐Phenotype Correlations in NF1
Author(s) -
KehrerSawatzki Hildegard
Publication year - 2015
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22669
Subject(s) - neurofibromin 1 , missense mutation , neurofibromatosis , neurofibroma , biology , phenotype , neurofibromatosis type i , genetics , cancer research , germline mutation , genotype , colocalization , germline , mutation , microbiology and biotechnology , gene