Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
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Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
description
scientific article published on 19 March 2020
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name
Bi-allelic LoF NRROS Variants ...... ith Intracranial Calcification
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type
label
Bi-allelic LoF NRROS Variants ...... ith Intracranial Calcification
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prefLabel
Bi-allelic LoF NRROS Variants ...... ith Intracranial Calcification
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P2093
P1476
Bi-allelic LoF NRROS Variants ...... ith Intracranial Calcification
@en
P2093
Daniel Calame
Francesca Clementina Radio
Ingrid E Scheffer
Jeremy L Freeman
John Christodoulou
Katherine B Howell
Marco Tartaglia
Maria Piccione
Natalie B Tan
Nicole J Van Bergen
P304
P356
10.1016/J.AJHG.2020.02.014
P577
2020-03-19T00:00:00Z