A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
<p style="text-align:justify;"> <b>Background:</b> Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly increasin...
Հիմնական հեղինակներ: | Thompson, R, Abicht, A, Beeson, D, Engel, A, Eymard, B, Maxime, E, Lochmüller, H |
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Ձևաչափ: | Journal article |
Լեզու: | English |
Հրապարակվել է: |
BioMed Central
2018
|
Նմանատիպ նյութեր
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A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
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The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
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