Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

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UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

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Q58698132-28F29AAE-C408-4EF2-B6EB-AAD52058938C

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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

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2017 nî lūn-bûn

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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

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Chris D Balak

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David Wiley

http://www.w3.org/2001/XMLSchema#string

Gennaro D'urso

http://www.w3.org/2001/XMLSchema#string

Jesse M Hunter

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Mary E Ahearn

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An efficient one-step site-directed deletion, insertion, single and multiple-site plasmid mutagenesis protocol.

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Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

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

Structural insights into E1-catalyzed ubiquitin activation and transfer to conjugating enzymes

Structure of the ubiquitin-activating enzyme loaded with two ubiquitin molecules

Multiple sequence alignment with hierarchical clustering

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scholarly article

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10.12688/F1000RESEARCH.11878.1

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Lisa Baumbach-Reardon

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2017-09-04T00:00:00Z

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29034082

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spinal muscular atrophy

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5615770

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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

about

P2860

P2860

Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P921

P932