Varaico: Literature-Extracted Genetic Variants

Gene:ASH1L
Variant:p.R1702*
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ASH1L

NM_018489.3:p.R1702*

Associated Papers

Novel MCA/ID syndrome with ASH1L mutation.

Okamoto N et al.

American Journal of Medical Genetics. Part A, 2017

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Grozeva D et al.

Human Mutation, 2015

26350204 (PubMed )
Supplement: HUMU-36-1197-s001.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."