Publications:

Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.

International Journal Of Molecular Sciences

Meunier, Justine J; Villar-Quiles, Rocio-Nur RN; Duband-Goulet, Isabelle I; Ferreiro, Ana A

Publication Date: 2021-06-03

Variant appearance in text: SMA: 667C>T

PubMed Link: 34204919

Variant Present in the following documents:

• Main text
• ijms-22-06039.pdf

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Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

Molecular Genetics & Genomic Medicine

Lu, Weiliang W; Liang, Mingxing M; Su, Jiasun J; Wang, Jin J; Li, Lingxiao L; Zhang, Shujie S; Qin, Zailong Z; Huang, Limei L; Lu, Yingchi Y; Yi, Shang S; Yi, Sheng S; Xie, BoBo B; Zheng, Haiyang H; Luo, Jingsi J; Gao, Xiaoyan X; Shen, Yiping Y

Publication Date: 2020-05

Variant appearance in text: SMA: 667C>T

PubMed Link: 32160656

Variant Present in the following documents:

• Main text
• MGG3-8-e1212.pdf

View BVdb publication page