Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1
Variant:p.H62Y
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PCBD1

NM_000281.4:p.H62Y

Associated Papers

PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report.

Tao D et al.

Frontiers in Pediatrics, 2022

35573952 (PubMed )
Supplement: Table_1.pdf
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