GBA c.1216A>G ;(p.I406V)

Variant ID: 1-155206044-T-C

NM_000157.3(GBA):c.1216A>G;(p.I406V)

This variant was identified in 1 publication

View GRCh38 version.




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: GBA: 1216A>G; I406V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page