Varaico: Literature-Extracted Genetic Variants

Gene:FAT4
Variant:p.R3821*
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FAT4

NM_001291303.3:p.R3821*

Associated Papers

Genetic and immunohistochemical profiling of NK/T-cell lymphomas reveals prognostically relevant BCOR-MYC association.

Oishi N et al.

Blood Advances, 2023

35882439 (PubMed )
Supplement: BLOODA_ADV-2022-007541-mmc2.xlsx › Sheet1

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Alders M et al.

Human Genetics, 2014

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.

Cappello S et al.

Nature Genetics, 2013

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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."