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: P953K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.

Bmc Medical Genetics

Núñez-Torres, Rocío R; Fernández, Raquel M RM; López-Alonso, Manuel M; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2009-11-19

Variant appearance in text: RET: Pro953Lys

PubMed Link: 19925665

Variant Present in the following documents:

• Main text
• 1471-2350-10-119.pdf

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