PMID: 29419487

Genetically engineered pigs as models for human disease.

Disease models & mechanisms
Perleberg, Carolin C, Kind, Alexander A, Schnieke, Angelika A
2018-01-22

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-2181128-C-T INS c.287G>A p.C96Y Missense 3/3 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
14-73640373-G-C PSEN1 c.438G>C p.M146I Missense 5/12 -
14-73640373-G-A PSEN1 c.438G>A p.M146I Missense 5/12 -
14-73640373-G-T PSEN1 c.438G>T p.M146I Missense 5/12 -