Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-6
Variant:p.R120P
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NKX2-6

NM_001136271.3:p.R120P

Associated Papers

NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.

Ritter A et al.

American Journal of Medical Genetics. Part A, 2020

OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death.

Damgaard RB et al.

Embo Molecular Medicine, 2019

30804083 (PubMed )
Supplement: EMMM-11-e9324-s001.pdf
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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."