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Elevated Leukodystrophy Incidence Predicted From Genomics Databases

BACKGROUND: Leukodystrophies are genetic diseases affecting the white matter and leading to early death. Our objective was to determine leukodystrophy incidence, using genomics sequencing databases allele frequencies of disease-causing variants. METHODS: From 49 genes, representing the standardly de...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Pediatr Neurol
Päätekijät: Soderholm, Haille E., Chapin, Alexander B., Bayrak-Toydemir, Pinar, Bonkowsky, Joshua L.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2020
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7506144/
https://ncbi.nlm.nih.gov/pubmed/32951664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2020.06.005
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