Autosomal fragile site (Q46910)

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Revision as of 15:47, 13 August 2026 by Determinaradmin (talk | contribs) (‎Changed label, description and/or aliases in pt-br, en)
Any disease caused by presence of a fragile site on an autosome. These diseases may present as asymptomatic. Confirmation is through observation of a fragile site by genetic testing.
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LD47.4
    English
    Autosomal fragile site
    Any disease caused by presence of a fragile site on an autosome. These diseases may present as asymptomatic. Confirmation is through observation of a fragile site by genetic testing.

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