Variant: rs886037931

present in Gene: PYCR2 present in Chromosome: 1 Position on Chromosome: 225921209 Alleles of this Variant: G/A

rs886037931 in PYCR2 gene and Abnormality of brain morphology PMID 27860360 2017 Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.

rs886037931 in PYCR2 gene and LEUKODYSTROPHY, HYPOMYELINATING, 10 PMID 27860360 2017 Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.