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: K821Q

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Orphanet Journal Of Rare Diseases

Lantieri, Francesca F; Gimelli, Stefania S; Viaggi, Chiara C; Stathaki, Elissavet E; Malacarne, Michela M; Santamaria, Giuseppe G; Grossi, Alice A; Mosconi, Manuela M; Sloan-Béna, Frédérique F; Prato, Alessio Pini AP; Coviello, Domenico D; Ceccherini, Isabella I

Publication Date: 2019-11-25

Variant appearance in text: RET: K821Q

PubMed Link: 31767031

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1205.pdf

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