Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.L980P
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CHD7

NM_017780.4:p.L980P

Associated Papers

Generation of a human iPSC line (FDCHi009-A) from a patient with CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C).

Peng T et al.

Stem Cell Research, 2023

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

Pauli S et al.

Clinical Genetics, 2012

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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."