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Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 901, doi. 10.1002/ajmg.a.62026
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- Article
Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (MLIP) gene cause myopathy with hyperCKemia.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 4, p. 1174, doi. 10.1111/ene.15218
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- Publication type:
- Article