A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.
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A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.
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2018 nî lūn-bûn
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2018年の論文
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2018年学术文章
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2018年学术文章
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2018年学术文章
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2018年学术文章
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name
A de novo Ser111Thr variant in ...... progressive gait disturbance.
@en
A de novo Ser111Thr variant in ...... progressive gait disturbance.
@nl
type
label
A de novo Ser111Thr variant in ...... progressive gait disturbance.
@en
A de novo Ser111Thr variant in ...... progressive gait disturbance.
@nl
prefLabel
A de novo Ser111Thr variant in ...... progressive gait disturbance.
@en
A de novo Ser111Thr variant in ...... progressive gait disturbance.
@nl
P2093
P2860
P50
P356
P1476
A de novo Ser111Thr variant in ...... d progressive gait disturbance
@en
P2093
Gunnar Houge
Ingvild Aukrust
Trine L Toft-Bertelsen
P2860
P356
10.1101/MCS.A002303
P577
2018-02-01T00:00:00Z