Varaico: Literature-Extracted Genetic Variants

Gene:RIPK3
Variant:p.A48V
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RIPK3

NM_006871.4:p.A48V

Associated Papers

Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency.

Liu Z et al.

Science Immunology, 2023

37083451 (PubMed )
Supplement: NIHMS1911516-supplement-data_file_S1.xlsx › S_Figure_2A_2C_2D_raw_values

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5
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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."