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Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3
- Ben-Shabat, I (author)
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- Kvarnung, M (author)
- Karolinska Institutet
- Sperker, W (author)
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- Engvall, M (author)
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- (creator_code:org_t)
- 2023
- 2023
- English.
- In: Neurology. Genetics. - 2376-7839. ; 9:6, s. e200100-
- Journal article (peer-reviewed)
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- Ben-Shabat, I
- Kvarnung, M
- Sperker, W
- Bruhn, H
- Wredenberg, A
- Wibom, R
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- Nennesmo, I
- Engvall, M
- Paucar, M
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