Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.A247_A254del0
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PHOX2B

NM_003924.4:p.A247_A254del0

Associated Papers

Comprehensive characterization of early-onset lung cancer, in Chinese young adults.

Tian Y et al.

Nature Communications, 2025

40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results

Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Wang Y et al.

Translational Vision Science & Technology, 2023

36735267 (PubMed )
Supplement: tvst-12-2-4_s001.xls › S4-Indels

Investigation of Molecular Features Involved in Clinical Responses and Survival in Advanced Endometrial Carcinoma Treated by Hormone Therapy.

Neron M et al.

Journal of Personalized Medicine, 2022

35629078 (PubMed )
Supplement: jpm-12-00655-s001.zip › Supplementary_tables__MC20220419.xlsx › Table_S4

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Sun D et al.

Frontiers in Oncology, 2022

36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.

Luzón-Toro B et al.

Scientific Reports, 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."