Varaico: Literature-Extracted Genetic Variants

Gene:MUSK
Variant:p.R74fs
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MUSK

NM_005592.4:p.R74fs

Associated Papers

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Tan-Sindhunata MB et al.

European Journal of Human Genetics : Ejhg, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."