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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETV6

Variant:p.L201F

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ETV6

NM_001987.5:p.L201F

hg38:chr12:11869561 C>T

Associated Papers

Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.

Lee S et al.

Journal of Clinical Neurology (seoul, Korea), 2024

39227335 (PubMed )

Germline RUNX1 variants in paediatric patients in a French specialised centre.

Liu C et al.

Ejhaem, 2023

36819173 (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."