Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.K850fs
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CHD7

NM_017780.4:p.K850fs

Associated Papers

Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.

Dana J et al.

Clinical Genetics, 2023

Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect.

Hu P et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2018

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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."