Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

Lars Hansen, Hasan Tawamie, Yoshiko Murakami, Yuan Mang, Shoaib ur Rehman, Rebecca Buchert, Stefanie Schaffer, Safia Muhammad, Mads Bak, Markus M Nöthen, Eric P Bennett, Yusuke Maeda, Michael Aigner, André Reis, Taroh Kinoshita, Niels Tommerup, Shahid Mahmood Baig, Rami Abou Jamra

73 Citationer (Scopus)

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Keyphrases

Biochemistry, Genetics and Molecular Biology