Varaico: Literature-Extracted Genetic Variants

Gene:ITGB5
Variant:p.E80Q
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ITGB5

NM_002213.5:p.E80Q

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

Tuncay IO et al.

Npj Genomic Medicine, 2022

35190550 (PubMed )
Supplement: 41525_2022_284_MOESM2_ESM.xlsx › Supplementary_Table_9

Plating human iPSC lines on micropatterned substrates reveals role for ITGB1 nsSNV in endoderm formation.

Vickers A et al.

Stem Cell Reports, 2021

34678211 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_11
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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."