Journal of Human Genetics Issues Research Articles in April 2023 Edition
March 27, 2023
March 27, 2023
YOKOHAMA, Japan, March 27 -- The Journal of Human Genetics, a journal on human genetics, including medical genetics and human genome analysis, published research articles on the following topics in its April 2023 edition:
Articles:
* Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
* A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar . . .
Articles:
* Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
* A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar . . .