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: NF1: 2178G>C; Val726=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.

Bmc Cancer

Gelsi-Boyer, Véronique V; Trouplin, Virginie V; Adélaïde, José J; Aceto, Nicola N; Remy, Virginie V; Pinson, Stephane S; Houdayer, Claude C; Arnoulet, Christine C; Sainty, Danielle D; Bentires-Alj, Mohamed M; Olschwang, Sylviane S; Vey, Norbert N; Mozziconacci, Marie-Joëlle MJ; Birnbaum, Daniel D; Chaffanet, Max M

Publication Date: 2008-10-16

Variant appearance in text: NF1: 2178G>C

PubMed Link: 18925961

Variant Present in the following documents:

• Main text
• 1471-2407-8-299.pdf

View BVdb publication page