Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia
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DOI: 10.1111/cge.13970
Abstract: The glycine cleavage system H protein (GCSH) is an integral part of the glycine cleavage system with its additional involvement in the synthesis and transport of lipoic acid. We hypothesize that pathogenic variants in GCSH… read more here.
Keywords: biallelic start; variant nonketotic; variant gcsh; loss variant ... See more keywords