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		<title>Hidden Gene Deletions Explain Severe Friedreich Ataxia Cases Misdiagnosed by Standard Testing</title>
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		<pubDate>Wed, 07 Oct 2026 19:23:28 +0000</pubDate>
				<category><![CDATA[Health]]></category>
		<category><![CDATA[ataxia]]></category>
		<category><![CDATA[cardiomyopathy]]></category>
		<category><![CDATA[compound heterozygote]]></category>
		<category><![CDATA[frataxin]]></category>
		<category><![CDATA[Friedreich ataxia]]></category>
		<category><![CDATA[FXN gene]]></category>
		<category><![CDATA[GAA repeat expansion]]></category>
		<category><![CDATA[gene deletion]]></category>
		<category><![CDATA[genetic diagnosis]]></category>
		<category><![CDATA[Genetic Testing]]></category>
		<category><![CDATA[long-read sequencing]]></category>
		<category><![CDATA[null variants]]></category>
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					<description><![CDATA[Researchers have identified covert deletions of the proximal FXN gene that standard testing mistakes for identical repeat expansions, revealing a genetic cause of unusually severe Friedreich ataxia.]]></description>
		
		
		
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