- ... click here . National Library of Medicine Genetics Home Reference Pyruvate carboxylase deficiency United Mitochondrial Disease Foundation (UMDF) 8085 ... Locus-Specific Databases HGMD ClinVar PC 11q13 .2 Pyruvate carboxylase, ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
- ... gov Catalog of Genes and Diseases from OMIM PYRUVATE CARBOXYLASE DEFICIENCY Scientific Articles on PubMed PubMed References Carbone MA, MacKay N, Ling M, Cole DE, ...
- ... ALPHA DEFICIENCY; PDHAD PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD Scientific Articles on PubMed PubMed References Brown RM, Head RA, Brown GK. Pyruvate dehydrogenase ...
- ... PubMed Catalog of Genes and Diseases from OMIM PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX Gene and Variant Databases NCBI Gene ClinVar References Brown RM, Head RA, Brown GK. Pyruvate dehydrogenase ...
- ... PubMed Catalog of Genes and Diseases from OMIM PYRUVATE CARBOXYLASE; PC Gene and Variant Databases NCBI Gene ClinVar References Carbone MA, MacKay N, Ling M, Cole DE, ...
- ... gov Catalog of Genes and Diseases from OMIM PYRUVATE KINASE DEFICIENCY OF RED CELLS Scientific Articles on PubMed PubMed References Ayi K, Min-Oo G, Serghides L, Crockett ...
- ... Genes and Diseases from OMIM LEIGH SYNDROME; LS PYRUVATE DEHYDROGENASE E1, SUBUNIT BETA; PDHB Gene and Variant Databases NCBI Gene ClinVar References Brown RM, Head RA, Boubriak II, Leonard JV, ...
- ... PubMed Catalog of Genes and Diseases from OMIM PYRUVATE DEHYDROGENASE PHOSPHATASE, CATALYTIC SUBUNIT 1; PDP1 Gene and Variant Databases NCBI Gene ClinVar References Cameron JM, Maj M, Levandovskiy V, Barnett CP, ...
- ... from OMIM PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD PYRUVATE DEHYDROGENASE E1, SUBUNIT ALPHA-1; PDHA1 Gene and Variant Databases NCBI Gene ClinVar References Chun K, MacKay N, Petrova-Benedict R, Federico ...
- ... PubMed Catalog of Genes and Diseases from OMIM PYRUVATE KINASE, LIVER AND RED BLOOD CELL; PKLR Gene and Variant Databases NCBI Gene ClinVar References Ayi K, Min-Oo G, Serghides L, Crockett ...
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