Publications:

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

Frontiers In Pediatrics

Tao, DongYing D; Zhang, HuiQin H; Yang, Jingmin J; Niu, HuanHong H; Zhang, JingJing J; Zeng, Minghua M; Cheng, ShengQuan S

Publication Date: 2022

Variant appearance in text: PC: 321+1G>T

PubMed Link: 35573952

Variant Present in the following documents:

• Main text
• fped-10-825515.pdf

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The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

Molecular Genetics And Metabolism

Wang, Dong D; Yang, Hong H; De Braganca, Kevin C KC; Lu, Jiesheng J; Yu Shih, Ling L; Briones, Paz P; Lang, Tim T; De Vivo, Darryl C DC

Publication Date: 2008

Variant appearance in text: PC: 321+1G>T

PubMed Link: 18676167

Variant Present in the following documents:

• Main text

View BVdb publication page