Varaico: Literature-Extracted Genetic Variants

Gene:GARIN1B
Variant:p.E242K
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GARIN1B

NM_001282788.3:p.E242K

Associated Papers

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Schmitt M et al.

Molecular & Cellular Proteomics : Mcp, 2021

34673281 (PubMed )
Supplement: mmc3.xlsx › S1

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf

Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing.

Cao M et al.

Gene, 2013

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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."