Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.D228N
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SHROOM2

NM_001649.4:p.D228N

Associated Papers

Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.

Chen J et al.

Journal of Medical Genetics, 2024

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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."