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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHOX2B

Variant:p.Q143_V144Splc

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PHOX2B

NM_003924.4:p.Q143_V144Splc

hg38:chr4:41746324 T>C

Associated Papers

Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.

Kim J et al.

Journal of the National Cancer Institute, 2024

37688579 (PubMed )

Germline pathogenic variants in 786 neuroblastoma patients.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36747619 (PubMed )

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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."