Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918523
rs121918523
PHF8
0.010 GeneticVariation BEFREE Here, we report a novel nonsense mutation (p.K177X) in a male patient who has MR associated with CL/P. 17594395

2007