Publications:

Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.

Frontiers In Neurology

Vieira, Sophia R L SRL; Morris, Huw R HR

Publication Date: 2021

Variant appearance in text: HR: L302P

PubMed Link: 34149605

Variant Present in the following documents:

• Main text
• fneur-12-679927.pdf

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Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.

Journal Of Medical Genetics

Fan, Yanbin Y; Tan, Dandan D; Song, Danyu D; Zhang, Xu X; Chang, Xingzhi X; Wang, Zhaoxia Z; Zhang, Cheng C; Chan, Sophelia Hoi-Shan SH; Wu, Qixi Q; Wu, Liwen L; Wang, Shuang S; Yan, Hui H; Ge, Lin L; Yang, Haipo H; Mao, Bing B; Bönnemann, Carsten C; Liu, Jingying J; Wang, Suxia S; Yuan, Yun Y; Wu, Xiru X; Zhang, Hong H; Xiong, Hui H

Publication Date: 2021-05

Variant appearance in text: HR: 905T>C; L302P

PubMed Link: 32571898

Variant Present in the following documents:

• jmedgenet-2019-106671supp001.pdf

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: HR: L302P

PubMed Link: 27175728

Variant Present in the following documents:

• Main text

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