Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

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2017 nî lūn-bûn

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name

Nemaline myopathy and distal a ...... ecessive TNNT3 splice variant.

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Nemaline myopathy and distal a ...... ecessive TNNT3 splice variant.

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Item

label

Nemaline myopathy and distal a ...... ecessive TNNT3 splice variant.

@en

Nemaline myopathy and distal a ...... ecessive TNNT3 splice variant.

@nl

prefLabel

Nemaline myopathy and distal a ...... ecessive TNNT3 splice variant.

@en

Nemaline myopathy and distal a ...... ecessive TNNT3 splice variant.

@nl

P1476

Nemaline myopathy and distal a ...... recessive TNNT3 splice variant

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P2093

Amanda Charlton

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Annapurna Sudarsanam

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Beryl B Cummings

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Christopher Troedson

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Daniel G MacArthur

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Elizabeth M Algar

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Gregory B Peters

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Kathryn N North

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Kristi J Jones

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Leigh B Waddell

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P2860

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

Troponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) mice

Troponin T isoforms and posttranscriptional modifications: Evolution, regulation and function

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Isolation and characterization of human fast skeletal beta troponin T cDNA: comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family.

Recent advances in nemaline myopathy.

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383-388

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scholarly article

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10.1002/HUMU.23385

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P433

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P478

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Amali Mallawaarachchi

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2018-01-13T00:00:00Z

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P698

29266598

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5805634

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