Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.G322E
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SULF1

NM_001128205.2:p.G322E

Associated Papers

A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.

Song C et al.

Journal of Human Genetics, 2019

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