Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS18
Variant:p.S1080R
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ADAMTS18

NM_199355.4:p.S1080R

Associated Papers

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Xing D et al.

Bmc Ophthalmology, 2020

33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete

Somatic Variations in Cervical Cancers in Indian Patients.

Das P et al.

Plos One, 2016

27829003 (PubMed )
Supplement: pone.0165878.s001.xlsx › somatic_cosmic_hit.list

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.

Dastani Z et al.

European Journal of Human Genetics : Ejhg, 2010

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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."