Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.P277insFs
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PHOX2B

NM_003924.4:p.P277insFs

Associated Papers

Diagnostic yield of genetic testing in 324 infants with hypotonia.

Sharma S et al.

Clinical Genetics, 2021

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Willig LK et al.

The Lancet. Respiratory Medicine, 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."