Varaico: Literature-Extracted Genetic Variants

Gene:ITGA8
Variant:p.R748C
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ITGA8

NM_003638.3:p.R748C

Associated Papers

Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.

Xu C et al.

Genome Research, 2024

39060028 (PubMed )
Supplement: Supplemental_Table_S7.xlsx › Table_S7

Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.

Amezquita J et al.

Biorxiv : the Preprint Server for Biology, 2023

38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Marcogliese PC et al.

Cell Reports, 2022

Systematic reconstruction of autism biology from massive genetic mutation profiles.

Luo W et al.

Science Advances, 2018

29651456 (PubMed )
Supplement: 1701799_TableS5.xlsx › missense
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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."