Varaico: Literature-Extracted Genetic Variants

Gene:CD248
Variant:p.S442_S443del1
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CD248

NM_020404.3:p.S442_S443del1

Associated Papers

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin's family by multi-omics analysis.

Hao XD et al.

Orphanet Journal of Rare Diseases, 2020

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."