Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.C381Y
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PCCB

NM_000532.5:p.C381Y

Associated Papers

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data.

Chapman KA et al.

Molecular Genetics and Metabolism Reports, 2018

Propionic acidemia in the Arab World.

Zayed H

Gene, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."