Varaico: Literature-Extracted Genetic Variants

Gene:IRF8
Variant:p.G272R
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IRF8

NM_002163.4:p.G272R

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.

Zhong G et al.

Hgg Advances, 2022

35519826 (PubMed )
Supplement: mmc2.xlsx › S4._De_novo_Variants

Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing.

Wang J et al.

European Journal of Human Genetics : Ejhg, 2021

32641753 (PubMed )
Supplement: 41431_2020_680_MOESM1_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."