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Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity
Author(s) -
Thompson Miles D.,
Cole David E.
Publication year - 2016
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.23016
Subject(s) - missense mutation , biology , genetics , exome sequencing , hypotonia , exome , joubert syndrome , genetic heterogeneity , mutation , gene , phenotype