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Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
BACKGROUND: Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A variants are from affected individuals of Maghrebian origin, who all carry an id...
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| Опубликовано в: : | BMC Med Genet |
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| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6454730/ https://ncbi.nlm.nih.gov/pubmed/30961538 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0795-x |
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