Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.I871T
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MERTK

NM_006343.3:p.I871T

Associated Papers

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.

Parinot C et al.

Advances in Experimental Medicine and Biology, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 321.156

Structural insights into the inhibited states of the Mer receptor tyrosine kinase.

Huang X et al.

Journal of Structural Biology, 2009

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

Gal A et al.

Nature Genetics, 2000

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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."