Publications:

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

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Sun, Miao M; Johnson, Amy Knight AK; Nelakuditi, Viswateja V; Guidugli, Lucia L; Fischer, David D; Arndt, Kelly K; Ma, Lan L; Sandford, Erin E; Shakkottai, Vikram V; Boycott, Kym K; Warman-Chardon, Jodi J; Li, Zejuan Z; Del Gaudio, Daniela D; Burmeister, Margit M; Gomez, Christopher M CM; Waggoner, Darrel J DJ; Das, Soma S

Publication Date: 2019-01

Variant appearance in text: ATM: Val1070Ala

PubMed Link: 29915382

Variant Present in the following documents:

• Main text

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