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Human phenotype caused by biallelic KDM4B frameshift variant.
Clin Genet. 2024 Jan;105(1):72-76. doi: 10.1111/cge.14409. Epub 2023 Aug 1.
Clin Genet. 2024.
PMID: 37526414
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.
Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A, Uchiyama Y, Matsumoto N.
Miyake N, et al.
Clin Genet. 2022 Mar;101(3):359-363. doi: 10.1111/cge.14097. Epub 2021 Dec 13.
Clin Genet. 2022.
PMID: 34866177
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