Varaico: Literature-Extracted Genetic Variants

Gene:CHD1
Variant:p.L1517fs
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CHD1

NM_001270.4:p.L1517fs

Associated Papers

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

Pilarowski GO et al.

Journal of Medical Genetics, 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."