Varaico: Literature-Extracted Genetic Variants

Gene:CHD3
Variant:p.I1119_D1120delins
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CHD3

NM_001005273.3:p.I1119_D1120delins

Associated Papers

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L et al.

Nature Communications, 2018

30397230 (PubMed )
Supplement: 41467_2018_6014_MOESM4_ESM.xlsx › Sheet1
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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."