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

Pubmed ID: 
29266598
Year: 
2018
Month: 
Mar
Volume: 
39
Issue: 
3
Citation: 
Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. HUMAN MUTATION 39 (3) : 383 - 388(2018) PubMed (Grant IDs: APP1002147, APP1048816, 1075451, 1080587)