Publications:

Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: GAA: 482dupC

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

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Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.

Children (Basel, Switzerland)

Park, Kyung-Sun KS

Publication Date: 2021-07-16

Variant appearance in text: GAA: 483dup; Lys162Glnfs*15

PubMed Link: 34356580

Variant Present in the following documents:

• Main text
• children-08-00601.pdf

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[Research advances in the diagnosis and treatment of Pompe disease].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Zhang, Xin-Tong XT; Ren, Wei-Dong WD

Publication Date: 2018-07

Variant appearance in text: GAA: 483dupC; K162QfsX15

PubMed Link: 30022764

Variant Present in the following documents:

• Main text

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A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.

Molecular Genetics And Metabolism Reports

Fukuhara, Yasuyuki Y; Fuji, Naoko N; Yamazaki, Narutoshi N; Hirakiyama, Asami A; Kamioka, Tetsuharu T; Seo, Joo-Hyun JH; Mashima, Ryuichi R; Kosuga, Motomichi M; Okuyama, Torayuki T

Publication Date: 2018-03

Variant appearance in text: GAA: 483dup; K162QfsX15

PubMed Link: 29124014

Variant Present in the following documents:

• Main text
• main.pdf

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Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.

Molecular Genetics And Metabolism Reports

Matsuoka, Takashi T; Miwa, Yoshiyuki Y; Tajika, Makiko M; Sawada, Madoka M; Fujimaki, Koichiro K; Soga, Takashi T; Tomita, Hideshi H; Uemura, Shigeru S; Nishino, Ichizo I; Fukuda, Tokiko T; Sugie, Hideo H; Kosuga, Motomichi M; Okuyama, Torayuki T; Umeda, Yoh Y

Publication Date: 2016-12

Variant appearance in text: GAA: 483dupC; K162QfsX15

PubMed Link: 27896132

Variant Present in the following documents:

• Main text
• main.pdf

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