Publications:

COG6-CDG: Novel variants and novel malformation.

Birth Defects Research

Cirnigliaro, Lara L; Bianchi, Paolo P; Sturiale, Luisa L; Garozzo, Domenico D; Mangili, Giovanna G; Keldermans, Liesbeth L; Rizzo, Renata R; Matthijs, Gert G; Fiumara, Agata A; Jaeken, Jaak J; Barone, Rita R

Publication Date: 2022-03

Variant appearance in text: COG3: G594V

PubMed Link: 35068072

Variant Present in the following documents:

• Main text
• BDR2-114-165.pdf

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Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.

Molecular Genetics & Genomic Medicine

Zhao, Peiwei P; Zhang, Lei L; Tan, Li L; Luo, Sukun S; Huang, Yufeng Y; Peng, Hanming H; Cao, Jiangxia J; He, Xuelian X

Publication Date: 2021-09

Variant appearance in text: COG3: G594V

PubMed Link: 34331832

Variant Present in the following documents:

• Main text
• MGG3-9-e1751.pdf

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Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.

Molecular Genetics & Genomic Medicine

Zhao, Peiwei P; Zhang, Lei L; Tan, Li L; Luo, Sukun S; Huang, Yufeng Y; Peng, Hanming H; Cao, Jiangxia J; He, Xuelian X

Publication Date: 2021-09

Variant appearance in text: COG3: G594V

PubMed Link: 34331832

Variant Present in the following documents:

• Main text
• MGG3-9-e1751.pdf

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Golgi inCOGnito: From vesicle tethering to human disease.

Biochimica Et Biophysica Acta. General Subjects

D'Souza, Zinia Z; Taher, Farhana S FS; Lupashin, Vladimir V VV

Publication Date: 2020-11

Variant appearance in text: COG3: G594V

PubMed Link: 32730773

Variant Present in the following documents:

• Main text
• main.pdf

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