Varaico: Literature-Extracted Genetic Variants

Gene:AFF3
Variant:p.A258T
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AFF3

NM_001025108.2:p.A258T

Associated Papers

Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.

Xu J et al.

Bmc Pediatrics, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Bassani S et al.

Genome Medicine, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Bassani S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.

Inoue Y et al.

Clinical Genetics, 2023

A novel variant in AFF3 underlying isolated syndactyly.

Khan H et al.

Clinical Genetics, 2023

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Levchenko O et al.

International Journal of Molecular Sciences, 2022

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

Shimizu D et al.

Journal of Human Genetics, 2019

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].

He XY et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015

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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."