Variant: rs672601372

present in Gene: RARS1 present in Chromosome: 5 Position on Chromosome: 168486503 Alleles of this Variant: A/C;G;T

rs672601372 in RARS1 gene and Abnormality of brain morphology PMID 24777941 2014 Mutations in RARS cause hypomyelination.

PMID 28905880 2017 Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

rs672601372 in RARS1 gene and LEUKODYSTROPHY, HYPOMYELINATING, 9 PMID 24777941 2014 Mutations in RARS cause hypomyelination.

PMID 28905880 2017 Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.