Varaico: Literature-Extracted Genetic Variants

Gene:AFF4
Variant:p.P253R
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AFF4

NM_014423.4:p.P253R

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

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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."