@article{
 title = {A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report},
 type = {article},
 year = {2024},
 pages = {101164},
 volume = {41},
 websites = {https://linkinghub.elsevier.com/retrieve/pii/S2214426924001174},
 month = {12},
 id = {6f9b99d6-9aea-38cf-b44f-f0a64e23fe35},
 created = {2024-12-22T13:01:40.702Z},
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 profile_id = {a1b2ded6-b257-3e56-ac7c-9d438762d170},
 last_modified = {2024-12-22T13:01:40.702Z},
 read = {false},
 starred = {false},
 authored = {true},
 confirmed = {true},
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 bibtype = {article},
 author = {Sobrinho, Lívia Maria Ferreira and Silva, Thiago Oliveira and Refosco, Lilia Farret and Poloni, Soraia and Poswar, Fabiano Oliveira and de Souza, Carolina Fischinger Moura and Sperb-Ludwig, Fernanda and Schwartz, Ida Vanessa Doederlein},
 doi = {10.1016/j.ymgmr.2024.101164},
 journal = {Molecular Genetics and Metabolism Reports}
}

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