The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle (Q35784455)

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scientific article published on 3 March 2015

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English	The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle	scientific article published on 3 March 2015

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scholarly article

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2 March 2020

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle (English)

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Freeman-Sheldon syndrome

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inferred from title

1

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author name string

Anita E Beck

2

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Margaret J McMillin

3

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F Steven Korte

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2 March 2020

Michael J Bamshad

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Michael Regnier

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publication date

3 March 2015

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2 March 2020

Human Molecular Genetics

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12

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2 March 2020

3348-3358

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describes a project that uses

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4481580

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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inferred from PubMed ID database lookup

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1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

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based on heuristic

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1 reference

https://pubmed.ncbi.nlm.nih.gov/25740846

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based on heuristic

inferred from PubMed ID database lookup

Sarcomere popping requires stretch over a range where total tension decreases with length

1 reference

https://pubmed.ncbi.nlm.nih.gov/25740846

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25740846

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based on heuristic

inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/25740846

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based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype relationships in Freeman-Sheldon syndrome

1 reference

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based on heuristic

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Identifiers

10.1093/HMG/DDV084

1 reference

Europe PubMed Central

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2 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25740846%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25740846%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

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