Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.D1657fs
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CHD7

NM_017780.4:p.D1657fs

Associated Papers

Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.

Biard JM et al.

European Journal of Medical Genetics, 2021

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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."