Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.
Journal Information
Full Title: Mol Genet Metab Rep
Abbreviation: Mol Genet Metab Rep
Country: Unknown
Publisher: Unknown
Language: N/A
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Subject Category: Genetics & Heredity
Available in Europe PMC: Yes
Available in PMC: Yes
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"the novel variants were classified according to acmg recommendations [ ] and submitted to the clinvar database ( https://www ncbi nlm nih gov/clinvar/ ) (accession numbers: scv002003956 - scv002003961) 2 6 cytogenetic analysis of patient 1 and his parents was performed on gtg-banded metaphase chromosomes obtained from cultured peripheral blood lymphocytes according to standard procedures."
"Declaration of Competing Interest All authors have seen and approved the manuscript. All authors declare no conflict of interest."
"Funding The research was carried out within the state assignment of the Ministry of Science and Higher Education of the Russian Federation for RCMG."
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Last Updated: Aug 05, 2025