Varaico: Literature-Extracted Genetic Variants

Gene:ITGA8
Variant:p.V994_I995Splc
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ITGA8

NM_003638.3:p.V994_I995Splc

Associated Papers

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_3

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.

Kohl S et al.

Journal of the American Society of Nephrology : Jasn, 2014

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Humbert C et al.

American Journal of Human Genetics, 2014

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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."