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Revealing novel splicing mutations in RAB3GAP1 gene causing Warburg Micro syndrome and a case including microduplication of 3q29

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2020-06-25

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GEÇKİNLİ B. B., TÜRKYILMAZ A., ALAVANDA C., TAŞLIDERE H., SAĞER S. G., ARSLAN ATEŞ E., SÖYLEMEZ M. A., ARMAN A., \"Revealing novel splicing mutations in RAB3GAP1 gene causing Warburg Micro syndrome and a case including microduplication of 3q29\", ESHG 2020, Avusturya, 6 - 09 Haziran 2020

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