Varaico: Literature-Extracted Genetic Variants

Gene:ZPBP2
Variant:p.S173I
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ZPBP2

NM_199321.3:p.S173I

Associated Papers

Exome variants associated with asthma and allergy.

Wjst M

Scientific Reports, 2022

36470944 (PubMed )
Supplement: 41598_2022_24960_MOESM1_ESM.pdf

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5

A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis.

Panganiban RA et al.

The Journal of Allergy and Clinical Immunology, 2018

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Ferreira MA et al.

Nature Genetics, 2017

29083406 (PubMed )
Supplement: NIHMS74439-supplement-Supplementary_tables.xlsx › ST12

Lessons from ten years of genome-wide association studies of asthma.

Vicente CT et al.

Clinical & Translational Immunology, 2017

29333270 (PubMed )
Supplement: cti201754x1.zip › CTI-17-REV-0041V1-s01.xls › Supplementary_Table_6

Detection and interpretation of shared genetic influences on 42 human traits.

Pickrell JK et al.

Nature Genetics, 2016

27182965 (PubMed )
Supplement: NIHMS780506-supplement-5.pdf

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K et al.

Gut, 2013

22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.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."