Primary brain calcification: an international study reporting novel variants and associated phenotypes

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Primary brain calcification: an international study reporting novel variants and associated phenotypes

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im Oktober 2018 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 28 June 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в жовтні 2018

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Primary brain calcification: a ...... ants and associated phenotypes

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Primary brain calcification: a ...... ants and associated phenotypes

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Primary brain calcification: a ...... ants and associated phenotypes

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Primary brain calcification: a ...... ants and associated phenotypes

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Primary brain calcification: a ...... ants and associated phenotypes

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Primary brain calcification: a ...... ants and associated phenotypes

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Primary brain calcification: a ...... ants and associated phenotypes

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Alison Ross

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Anne-Claire Richard

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Barbara Garavaglia

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Brent L Fogel

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Celeste Panteghini

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Christine Tranchant

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Cyril Goizet

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Daniel H Geschwind

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David Maltete

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David Wallon

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P2860

Analysis of protein-coding genetic variation in 60,706 humans

Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology

cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Vascular calcification and inorganic phosphate.

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s41431-018-0185-4

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1462-1477

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scholarly article

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10.1038/S41431-018-0185-4

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English

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2018-06-28T00:00:00Z

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29955172

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6138755

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