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Biallelic Truncating Variants in ATP9A Cause a Novel Neurodevelopmental Disorder Involving Postnatal Microcephaly and Failure to Thrive.

Guido Vogt,Sarah Verheyen,Sarina Schwartzmann,Nadja Ehmke,Cornelia Potratz,Anette Schwerin-Nagel,Barbara Plecko,Manuel Holtgrewe,Dominik Seelow,Jasmin Blatterer,Michael R. Speicher,Uwe Kornak,Denise Horn,Stefan Mundlos,Bjorn Fischer-Zirnsak,Felix Boschann

Journal of Medical Genetics（2021）

引用 11|浏览30
关键词
congenital,hereditary,and neonatal diseases and abnormalities,genetics,medical,sequence analysis,DNA,sequence analysis,RNA
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