Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.R346H
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CHAT

NM_020549.5:p.R346H

Associated Papers

Extrachromosomal driver mutations in glioblastoma and low-grade glioma.

Nikolaev S et al.

Nature Communications, 2014

25471132 (PubMed )
Supplement: NIHMS60838-supplement-Supplementary_Data_2.xlsx › SupplementaryData2

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.

den Hollander AI et al.

Investigative Ophthalmology & Visual Science, 2009

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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."