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doi: 10.1016/S0014-4835(02)00307-X
Masuda, D
I would have liked clearer guidance on when to involve labs or a clinician
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FXS results from an expanded CGG repeat sequence, which may include over 200 repeats (so-called full mutation) in the 5 untranslated region of the FMR1 gene situated at Xq27.3
