Publications:

Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma.

Cold Spring Harbor Molecular Case Studies

Crawford, Kenneth A KA; Berlow, Noah E NE; Tsay, Jennifer J; Lazich, Michael M; Mancini, Maria M; Noakes, Christopher C; Huang, Tannie T; Keller, Charles C

Publication Date: 2020-06

Variant appearance in text: RET: Arg749Cys

PubMed Link: 32532875

Variant Present in the following documents:

• Main text
• MCS004853Cra.pdf
• supp_mcs.a004853_Supplemental_Table1.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: RET: R749C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page