Varaico: Literature-Extracted Genetic Variants

Gene:AFF4
Variant:p.P253L
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AFF4

NM_014423.4:p.P253L

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

Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2025

Physiological and pathophysiological mechanisms of the molecular and cellular biology of angiogenesis and inflammation in moyamoya angiopathy and related vascular diseases.

Dorschel KB et al.

Frontiers in Neurology, 2023

A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy.

Kim SY et al.

Brain & Development, 2021

Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Bouska A et al.

Leukemia, 2017

27389057 (PubMed )
Supplement: NIHMS790817-supplement-6.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."