Publications:

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Annals Of Translational Medicine

Lu, Qiang Q; Shang, Liang L; Tian, Wo Tu WT; Cao, Li L; Zhang, Xue X; Liu, Qing Q

Publication Date: 2020-01

Variant appearance in text: TTN: 782C>T; P261L

PubMed Link: 32055599

Variant Present in the following documents:

• Main text

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: TTN: 782C>T; P261L

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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