Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3 .
Ilan Ben-ShabatMalin KvarnungWolfgang SperkerHelene BruhnAnna WredenbergRolf WibomInger NennesmoMartin EngvallMartin PaucarPublished in: Neurology. Genetics (2023)
-related diseases.
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