Publications:

Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine

Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L

Publication Date: 2022-07

Variant appearance in text: GAA: 2051C>A; Pro684Gln

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 2051C>A

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 2051C>A

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.

Chinese Medical Journal

Liu, Hua-Xu HX; Pu, Chuan-Qiang CQ; Shi, Qiang Q; Zhang, Yu-Tong YT; Ban, Rui R

Publication Date: 2018-02-20

Variant appearance in text: GAA: 2051C>A; P684Q

PubMed Link: 29451150

Variant Present in the following documents:

• CMJ-131-448.pdf

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Active residues and viral substrate cleavage sites of the protease of the birnavirus infectious pancreatic necrosis virus.

Journal Of Virology

Petit, S S; Lejal, N N; Huet, J C JC; Delmas, B B

Publication Date: 2000-03

Variant appearance in text: GAA: P684Q

PubMed Link: 10666235

Variant Present in the following documents:

• Main text

View BVdb publication page