A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
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A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
description
2019 nî lūn-bûn
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2019年の論文
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2019年学术文章
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2019年学术文章
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2019年学术文章
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2019年学术文章
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2019年学术文章
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2019年学术文章
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2019年學術文章
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2019年學術文章
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name
A de novo heterozygous missens ...... l and epileptic encephalopathy
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type
label
A de novo heterozygous missens ...... l and epileptic encephalopathy
@en
prefLabel
A de novo heterozygous missens ...... l and epileptic encephalopathy
@en
P2093
P1476
A de novo heterozygous missens ...... l and epileptic encephalopathy
@en
P2093
Alejandra Darling
Ana Fernández-Marmiesse
Cristina Jou
David Araújo-Vilar
María M O'Callaghan
Sofía Sánchez-Iglesias
P304
P356
10.1016/J.SEIZURE.2019.07.019
P50
P577
2019-07-25T00:00:00Z