Varaico: Literature-Extracted Genetic Variants

Gene:ITGA6
Variant:p.M50V
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ITGA6

NM_000210.4:p.M50V

Associated Papers

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: mmc1.pdf

A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.

Lucky AW et al.

Pediatric Dermatology, 2018

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA3_Deleterious_Hits

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
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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."