Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.P82L
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PHOX2B

NM_003924.4:p.P82L

Associated Papers

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome.

Kagan O et al.

Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2023

Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.

Kasi AS et al.

Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2021

Life-threatening cardiac arrhythmias in congenital central hypoventilation syndrome.

Laifman E et al.

European Journal of Pediatrics, 2020

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.

Elliott AM et al.

European Journal of Pediatrics, 2019

The genetics of congenital central hypoventilation syndrome: clinical implications.

Bishara J et al.

The Application of Clinical Genetics, 2018

Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation.

Kasi AS et al.

Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2017

Small-cell lung cancers in patients who never smoked cigarettes.

Varghese AM et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2014

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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."