Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS17
Variant:p.N1094S
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ADAMTS17

NM_139057.4:p.N1094S

Associated Papers

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.

Choi J et al.

Science Advances, 2023

37556544 (PubMed )
Supplement: sciadv.adg6319_tables_s5_s6_s9_and_s11.zip › Table_S11.xlsx › Table_S11

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Skuladottir AT et al.

Nature Communications, 2022

35332129 (PubMed )
Supplement: 41467_2022_29133_MOESM4_ESM.xlsx › Supp._Data_4

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M et al.

Nature Communications, 2019

31562340 (PubMed )
Supplement: 41467_2019_12276_MOESM9_ESM.xlsx › Supplementary_Data_7

A long-term surviving patient with recurrent low-grade serous ovarian carcinoma treated with the MEK1/2 inhibitor, selumetinib.

Takekuma M et al.

Gynecologic Oncology Research and Practice, 2016

Host genetic variation impacts microbiome composition across human body sites.

Blekhman R et al.

Genome Biology, 2015

26374288 (PubMed )
Supplement: 13059_2015_759_MOESM2_ESM.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."