Publications:

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.

Bmc Pediatrics

Zhang, Yu Y; Yan, Hui H; Liu, Jieyu J; Yan, Huifang H; Ma, Yinan Y; Wei, Cuijie C; Wang, Zhaoxia Z; Xiong, Hui H; Chang, Xingzhi X

Publication Date: 2022-01-26

Variant appearance in text: TTN: 95341C>T; Arg31781Ter

PubMed Link: 35081925

Variant Present in the following documents:

• Main text
• 12887_2021_Article_3024.pdf

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Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant in TTN: A case report.

Clinical Case Reports

Huang, Sheng S; Ma, Yinan Y; Zhang, Yu Y; Xiong, Hui H; Chang, Xingzhi X

Publication Date: 2021-07

Variant appearance in text: TTN: 95341C>T; Arg31781Ter

PubMed Link: 34295493

Variant Present in the following documents:

• Main text
• CCR3-9-e04478.pdf

View BVdb publication page