Condition: Sensorimotor neuropathy
rs1555817157
in
ABHD12
gene and
Sensorimotor neuropathy
PMID 29571850
2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
rs1555631390
in
TTR
gene and
Sensorimotor neuropathy
PMID 29941560
2018 Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease.