Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Q972_L973delFs
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CHD7

NM_017780.4:p.Q972_L973delFs

Associated Papers

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

28274167 (PubMed )
Supplement: supplement_1.doc

A novel CHD7 mutation in a Chinese patient with CHARGE syndrome.

Liu L et al.

Meta Gene, 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."