Condition: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
rs145555213
in
FARS2
gene and
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
PMID 26553276
2016 A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
PMID 29126765
2017 New insights into the phenotype of FARS2 deficiency.
PMID 25851414
2015 Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.