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Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency by Minsun Kim, Seung Yeob Lee, Seung Yeob Lee, Namsu Kim, Namsu Kim, Jaehyeon Lee, Jaehyeon Lee, Dal Sik Kim, Dal Sik Kim, Joonhong Park, Joonhong Park, Yong Gon Cho, Yong Gon Cho
Published 2022Connect to this object online.
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