Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Sun, Miao ; Johnson, Amy Knight ; Nelakuditi, Viswateja ; Guidugli, Lucia ; Fischer, David ; Arndt, Kelly ; Ma, Lan ; Sandford, Erin ; Shakkottai, Vikram ; Boycott, Kym ; Chardon, Jodi Warman ; Li, Zejuan ; del Gaudio, Daniela ; Burmeister, Margit ; Gomez, Christopher M. ; Waggoner, Darrel J. ; Das, Soma

Genetics in medicine, 2019-01, Vol.21 (1), p.195-206 [Periódico revisado por pares]

United States: Elsevier Inc

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