Varaico: Literature-Extracted Genetic Variants

Gene:ACKR3
Variant:p.H298Y
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ACKR3

NM_020311.3:p.H298Y

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS33_het

Familial nonmedullary thyroid cancer: a case series in Iranian patients with a meta-review of case series.

Mohammadi Zaniani Z et al.

Laboratory Medicine, 2024

Identifying Key Somatic Copy Number Alterations Driving Dysregulation of Cancer Hallmarks in Lower-Grade Glioma.

Zhou Y et al.

Frontiers in Genetics, 2021

34163522 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study.

Mahmoodi M et al.

Familial Cancer, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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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."