Varaico: Literature-Extracted Genetic Variants

Gene:PRTN3
Variant:p.Q123_L124Splc
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PRTN3

NM_002777.4:p.Q123_L124Splc

Associated Papers

Talaromyces marneffei Infections in 8 Chinese Children with Inborn Errors of Immunity.

Wang L et al.

Mycopathologia, 2022

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

Manshaei R et al.

Frontiers in Genetics, 2020

33110418 (PubMed )
Supplement: Data_Sheet_2.zip › SupplementaryTables_FrontiersInGenetics › Supplementary_Table_S1__Ultra-rare_variants_observed_for_231_CHD_samples_including_gnomAD_o_e_constraint_scores.XLSX › All_LoF_Variants

Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.

Lee PP et al.

Journal of Clinical Immunology, 2009

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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."