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Identification of 83 Novel Alpha‐Mannosidosis‐Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations
Author(s) -
Riise Stensland Hilde Monica Frostad,
Klenow Helle Bagterp,
Nguyen Lam Van,
Hansen Gaute Martin,
Malm Dag,
Nilssen Øivind
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.23002
Subject(s) - exon , missense mutation , biology , genetics , identification (biology) , mutation , table (database) , sequence (biology) , gene , computer science , botany , data mining
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