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Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
Rope AF,
Wang K,
Evjenth R,
Xing J,
Johnston JJ,
Swensen JJ,
Johnson WE,
Moore B,
Huff CD,
Bird LM,
Carey JC,
Opitz JM,
Stevens CA,
Jiang T,
Schank C,
Fain HD,
Robison R,
Dalley B,
Chin S,
South ST,
Pysher TJ,
Jorde LB,
Hakonarson H,
Lillehaug JR,
Biesecker LG,
Yandell M,
Arnesen T,
Lyon GJ

Am J Hum Genet
  89 (1): 28-43; Jul 15 2011  
[DOI] [Full Text]

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