Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.E39_I40Splc
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UNC13D

NM_199242.3:p.E39_I40Splc

Associated Papers

Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Keegan NP et al.

Frontiers in Genetics, 2022

35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1

Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Keegan NP et al.

Frontiers in Genetics, 2021

35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1

Molecular basis of familial hemophagocytic lymphohistiocytosis.

Cetica V et al.

Haematologica, 2010

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.

Santoro A et al.

Haematologica, 2008

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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."