Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.P273S
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CHD7

NM_017780.4:p.P273S

Associated Papers

Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

Hong S et al.

Molecular Genetics & Genomic Medicine, 2019

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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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."