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- Q91173609 description "article scientifique publié en 2018" @default.
- Q91173609 description "artículu científicu espublizáu n'agostu de 2018" @default.
- Q91173609 description "scientific article published on 27 August 2018" @default.
- Q91173609 description "wetenschappelijk artikel" @default.
- Q91173609 description "наукова стаття, опублікована в серпні 2018" @default.
- Q91173609 name "Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome" @default.
- Q91173609 name "Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome" @default.
- Q91173609 type Item @default.
- Q91173609 label "Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome" @default.
- Q91173609 label "Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome" @default.
- Q91173609 prefLabel "Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome" @default.
- Q91173609 prefLabel "Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome" @default.
- Q91173609 P1433 Q91173609-EBFD61DA-DDDC-4D86-B792-9E32D81B54EB @default.
- Q91173609 P1476 Q91173609-BC66F377-8772-4BFA-81BE-B7326CC5CC86 @default.
- Q91173609 P2093 Q91173609-092D1A1F-3F7F-4EF9-B7A7-1AB56B010306 @default.
- Q91173609 P2093 Q91173609-0C441135-1D29-4D1C-B74E-28AC36F46986 @default.
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- Q91173609 P2093 Q91173609-6DD1AAFF-90A1-4A34-B1CC-BBD58E469756 @default.
- Q91173609 P2093 Q91173609-B628131E-6049-44BC-9A2B-73EE203BC8B2 @default.
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- Q91173609 P304 Q91173609-7140DB3B-C2B2-4DF6-A16A-561FD86BE329 @default.
- Q91173609 P31 Q91173609-A4B1140B-598F-41A9-BE6E-7E211FB00D1C @default.
- Q91173609 P356 Q91173609-BCA73759-2D1E-4AF6-B085-CD783297145C @default.
- Q91173609 P433 Q91173609-F80AEEB2-84D9-4463-9B84-279E3EBD3602 @default.
- Q91173609 P478 Q91173609-F3F60038-13E4-44D4-BEEE-0BA8D4BC6F27 @default.
- Q91173609 P50 Q91173609-97C25056-20E2-4BC6-91B0-06C511D33D70 @default.
- Q91173609 P577 Q91173609-C63809B3-7545-4347-934F-855B6623C69F @default.
- Q91173609 P698 Q91173609-3B7E0335-F840-4C37-B5C9-E676CFA0A365 @default.
- Q91173609 P921 Q91173609-40AB516E-398A-4C3A-8E85-77D05E9F9770 @default.
- Q91173609 P921 Q91173609-60947143-42CA-4C86-9E3A-8C4CA87EDC31 @default.
- Q91173609 P356 AJMG.A.40500 @default.
- Q91173609 P698 30152144 @default.
- Q91173609 P1433 Q4744254 @default.
- Q91173609 P1476 "Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome" @default.
- Q91173609 P2093 "Akiko Takeshita" @default.
- Q91173609 P2093 "Hidetsugu Nakatsukasa" @default.
- Q91173609 P2093 "Keiko Yamamoto-Shimojima" @default.
- Q91173609 P2093 "Kyoko Hirasawa" @default.
- Q91173609 P2093 "Satoru Nagata" @default.
- Q91173609 P2093 "Shino Shimada" @default.
- Q91173609 P2093 "Taichi Imaizumi" @default.
- Q91173609 P304 "2803-2807" @default.
- Q91173609 P31 Q13442814 @default.
- Q91173609 P356 "10.1002/AJMG.A.40500" @default.
- Q91173609 P433 "12" @default.
- Q91173609 P478 "176" @default.
- Q91173609 P50 Q47703789 @default.
- Q91173609 P577 "2018-08-27T00:00:00Z" @default.
- Q91173609 P698 "30152144" @default.
- Q91173609 P921 Q124059385 @default.
- Q91173609 P921 Q7925271 @default.