Varaico: Literature-Extracted Genetic Variants

Gene:NODAL
Variant:p.R302C
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NODAL

NM_018055.5:p.R302C

Associated Papers

Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Davis AA et al.

Plastic and Reconstructive Surgery. Global Open, 2019

Recurrent PDGFRB mutations in unicentric Castleman disease.

Li Z et al.

Leukemia, 2019

30607019 (PubMed )
Supplement: 41375_2018_323_MOESM5_ESM.xls › Table_S2

Molecular testing in holoprosencephaly.

Kruszka P et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018

Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).

Nash D et al.

Plos One, 2015

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.

Roessler E et al.

Molecular Genetics and Metabolism, 0

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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."