Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.G428R
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LIG4

NM_206937.2:p.G428R

Associated Papers

Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.

Alizadeh Z et al.

Genes and Immunity, 2023

Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).

Rahmani F et al.

Immunological Investigations, 2021

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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."