Varaico: Literature-Extracted Genetic Variants

Gene:AFF4
Variant:p.A255T
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AFF4

NM_014423.4:p.A255T

Associated Papers

Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome.

Deng X et al.

Intractable & Rare Diseases Research, 2025

Clinical and molecular spectrum of CHOPS syndrome.

Raible SE et al.

American Journal of Medical Genetics. Part A, 2019

Somatic inactivating PTPRJ mutations and dysregulated pathways identified in canine malignant melanoma by integrated comparative genomic analysis.

Hendricks WPD et al.

Plos Genetics, 2018

30188888 (PubMed )
Supplement: pgen.1007589.s013.xlsx › ND10-166
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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."