Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC
leucine rich pentatricopeptide repeat containing 0.493 0.769 2.3E-10
Leigh syndrome , French Canadian type
disease 0.790 None 1.000 4 43 2003 2019