Raw sanger files.
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<pre> a Chinese patient with suspected DEE identified a novel likely pathogenic frameshift variant in RNF13 (c.929del/p.Pro310fs*3)</pre>
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2025-04-15
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<pre> a Chinese patient with suspected DEE identified a novel likely pathogenic frameshift variant in RNF13 (c.929del/p.Pro310fs*3)</pre>