Missing heritability of Wilson disease: a search for the uncharacterized mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00335-022-09971-y.pdf
Reference104 articles.
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3. Antos A, Litwin T, Skowronska M, Kurkowska-Jastrzebska I, Czlonkowska A (2020) Pitfalls in diagnosing Wilson’s Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene. Neurol Neurochir Pol 54:478–480
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