Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.M1delFs
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PHOX2B

NM_003924.4:p.M1delFs

Associated Papers

A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.

Pace NP et al.

Molecular Genetics & Genomic Medicine, 2020

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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."