Varaico: Literature-Extracted Genetic Variants

Gene:TOP6BL
Variant:p.V334L
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TOP6BL

NM_001302084.2:p.V334L

Associated Papers

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1

Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.

Diao H et al.

Medicine, 2018

30431579 (PubMed )
Supplement: medi-97-e13117-s001.xlsx › Sheet1
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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."