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Journal Article

Karakaya, Mert, Paketci, Cem ORCID: 0000-0003-3587-6830, Altmueller, Janine, Thiele, Holger, Hoelker, Irmgard, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Am. J. Med. Genet. A, 179 (8). S. 1580 - 1585. HOBOKEN: WILEY. ISSN 1552-4833

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