Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894519
rs104894519
LITAF
0.010 GeneticVariation BEFREE The G112S mutation in LITAF seems to be clinically indistinguishable from a mild presentation of CMT1A.Muscle Nerve 56: 1092-1095, 2017. 28164329

2017