Publications:

Multifocal micronodular pneumocyte hyperplasia lacking typical clinical features of the tuberous sclerosis complex: a case report and literature review.

Bmc Pulmonary Medicine

Li, Shan S; Wu, Chaojie C; Ma, Qiyun Q; Chen, Xueqin X; Zhang, Wei W; Li, Xiao X; Huang, Mao M; Ji, Ningfei N

Publication Date: 2022-03-05

Variant appearance in text: TSC1: 813T>A

PubMed Link: 35248007

Variant Present in the following documents:

• Main text
• 12890_2022_Article_1849.pdf

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: TSC1: Y271*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1

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