Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.R115W
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PHOX2B

NM_003924.4:p.R115W

Associated Papers

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Tooze RS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

37154149 (PubMed )
Supplement: mmc2.pdf
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