ZEYNEP COBAN-AKDEMIR to Abnormalities, Multiple
This is a "connection" page, showing publications ZEYNEP COBAN-AKDEMIR has written about Abnormalities, Multiple.
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De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 2022 08; 188(8):2360-2366.
Score: 0.126
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De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. Eur J Hum Genet. 2019 05; 27(5):738-746.
Score: 0.099
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
Score: 0.026