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: TNNT2: 522C>T; Asn174=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).

Plos One

Rani, Deepa Selvi DS; Dhandapany, Perundurai S PS; Nallari, Pratibha P; Narasimhan, Calambur C; Thangaraj, Kumarasamy K

Publication Date: 2014

Variant appearance in text: rs483352833

PubMed Link: 24992688

Variant Present in the following documents:

• Main text
• pone.0101451.pdf

View BVdb publication page