Varaico: Literature-Extracted Genetic Variants

Gene:CHD4
Variant:p.H1161R
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CHD4

NM_001273.5:p.H1161R

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_MOESM1_ESM.pdf
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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."