Publications:

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: M918L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

Plos One

Crona, Joakim J; Ljungström, Viktor V; Welin, Staffan S; Walz, Martin K MK; Hellman, Per P; Björklund, Peyman P

Publication Date: 2015

Variant appearance in text: RET: Met918Leu

PubMed Link: 26230854

Variant Present in the following documents:

• Main text
• pone.0133210.pdf

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