[HTML][HTML] 先天性肌营养不良1A 型患儿临床特征及LAMA2 变异分析： 病例报告1 例及文献复习
郭丽， 汤雯敏， 宋元宗 - Chinese Journal of Contemporary …, 2020 - ncbi.nlm.nih.gov
… Biallelic pathogenic mutations of the LAMA2 gene result in congenital muscular dystrophy
… reported before and was identified as a pathogenic mutation based on the ACMG guideline. …
… reported before and was identified as a pathogenic mutation based on the ACMG guideline. …