Publications:

Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TTN: 32854G>C

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Neurology

Ceyhan-Birsoy, Ozge O; Agrawal, Pankaj B PB; Hidalgo, Carlos C; Schmitz-Abe, Klaus K; DeChene, Elizabeth T ET; Swanson, Lindsay C LC; Soemedi, Rachel R; Vasli, Nasim N; Iannaccone, Susan T ST; Shieh, Perry B PB; Shur, Natasha N; Dennison, Jane M JM; Lawlor, Michael W MW; Laporte, Jocelyn J; Markianos, Kyriacos K; Fairbrother, William G WG; Granzier, Henk H; Beggs, Alan H AH

Publication Date: 2013-10-01

Variant appearance in text: TTN: 32854G>C

PubMed Link: 23975875

Variant Present in the following documents:

• Main text

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