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Journal: Genes, 2025
Volume: 16
Number: 1077
Article:
Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review
Authors:
by
Karin Writzl, Maruša Škrjanec Pušenjak, Matevž Jus, Aleš Maver, Nuška Pečarič Meglič, Borut Peterlin and Lea Leonardis
Link:
https://www.mdpi.com/2073-4425/16/9/1077
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