Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) (Q24318956)
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Current Data About Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
(P31) (Q13442814)

(P304) 88-92

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(P433) 1

(P478) 16

(P577) +1997-05-00T00:00:00Z

(P921) (Q21156038)
(P248)

(Q14839643)
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(P1476) "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)" (language: en)

(P2093) G Matthijs
(P1545) 1

E Schollen
(P1545) 2

E Pardon
(P1545) 3

M Veiga-Da-Cunha
(P1545) 4

J Jaeken
(P1545) 5

J J Cassiman
(P1545) 6

E Van Schaftingen
(P1545) 7

(P2860) (Q28118150)
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(P854) https://api.crossref.org/works/10.1038/NG0597-88
(P813) Thursday, April 20, 2017

(Q28277156)
(P248)
(P854) https://api.crossref.org/works/10.1038/NG0597-88
(P813) Thursday, April 20, 2017

(Q45345362)
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(P854) https://api.crossref.org/works/10.1038%2FNG0597-88
(P813) Sunday, January 21, 2018

(Q36742469)
(P248)
(P854) https://api.crossref.org/works/10.1038%2FNG0597-88
(P813) Sunday, January 21, 2018

(Q34348805)
(P248)
(P854) https://api.crossref.org/works/10.1038%2FNG0597-88
(P813) Thursday, January 7, 2021
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(Q33678333)
(P248)
(P854) https://api.crossref.org/works/10.1038%2FNG0597-88
(P813) Thursday, January 7, 2021
(P887)

(Q33732436)
(P248)
(P854) https://api.crossref.org/works/10.1038%2FNG0597-88
(P813) Thursday, January 7, 2021
(P887)

(Q60042765)
(P248)
(P854) https://api.crossref.org/works/10.1038%2FNG0597-88
(P813) Thursday, January 7, 2021
(P887)

(Q70869007)
(P248)
(P854) https://api.crossref.org/works/10.1038%2FNG0597-88
(P813) Thursday, January 7, 2021
(P887)

(Q67973815)
(P248)
(P854) https://api.crossref.org/works/10.1038%2FNG0597-88
(P813) Thursday, January 7, 2021
(P887)

(Q45797729)
(P248)
(P854) https://api.crossref.org/works/10.1038%2FNG0597-88
(P813) Thursday, January 7, 2021
(P887)

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(P356) 10.1038/NG0597-88
(P698) 9140401
(P3181) 4845041
(P6179) 1052839416