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: TSC2: 848+1G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Plos Genetics

Tyburczy, Magdalena E ME; Dies, Kira A KA; Glass, Jennifer J; Camposano, Susana S; Chekaluk, Yvonne Y; Thorner, Aaron R AR; Lin, Ling L; Krueger, Darcy D; Franz, David N DN; Thiele, Elizabeth A EA; Sahin, Mustafa M; Kwiatkowski, David J DJ

Publication Date: 2015-11

Variant appearance in text: TSC2: 848+1G>A

PubMed Link: 26540169

Variant Present in the following documents:

• Main text
• pgen.1005637.pdf

View BVdb publication page