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Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy |
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Titel: |
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy |
Auteur: |
Schirwani, Schaida Sarkozy, Anna Phadke, Rahul Childs, Anne-Marie Mein, Rachael Ismail, Azzam Smith, Audrey Muntoni, Francesco Hobson, Emma Pysden, Karen |
Verschenen in: |
Neuromuscular disorders |
Paginering: |
Jaargang 31 () nr. 4 pagina's 359-366 |
Jaar: |
2021 |
Inhoud: |
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Uitgever: |
Published by Elsevier B.V. |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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