Ethnic variation and the relevance of homozygous RNF 213 p.R4810.K variant in the phenotype of Indian Moya moya disease.
Arun KC M ShafeequeJayanand B SudhirMoinak BanerjeePadmavathyamma Narayanapillai SylajaPublished in: PloS one (2020)
The homozygous rs112735431(p.R4810K) variant in RNF 213 variant not only predicts the risk for MMD but can also predict the phenotypic variants.