Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.Q143_V144Splc
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PHOX2B

NM_003924.4:p.Q143_V144Splc

Associated Papers

Images: Atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea.

Fain ME et al.

Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2024

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_6
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