Publications:

Primary intrathoracic liposarcomas: A clinicopathologic and molecular study of 43 cases in one of the largest medical centers of China.

Frontiers In Oncology

Xie, You Y; Jing, Wenyi W; Zhao, Wei W; Peng, Ran R; Chen, Min M; Lan, Ting T; Peng, Heng H; He, Xin X; Chen, Huijiao H; Zhang, Zhang Z; Zhang, Hongying H

Publication Date: 2022

Variant appearance in text: SMA: 215G>C

PubMed Link: 36059611

Variant Present in the following documents:

• Main text
• fonc-12-949962.pdf

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: SMN1: 215G>C; Arg72Pro

PubMed Link: 23820649

Variant Present in the following documents:

• Main text

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