Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3 .

Ilan Ben-Shabat Malin Kvarnung Wolfgang SperkerHelene BruhnAnna Wredenberg Rolf Wibom Inger NennesmoMartin EngvallMartin Paucar

Published in: Neurology. Genetics (2023)

-related diseases.

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