Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
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Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11.
Mol Genet Metab. 2024.
PMID: 38244286
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