Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.S76T
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PHOX2B

NM_003924.4:p.S76T

Associated Papers

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.

Bard AM et al.

American Journal of Medical Genetics. Part A, 2024

Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.

Bard AM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
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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."