Varaico: Literature-Extracted Genetic Variants

Gene:EXTL2
Variant:p.G188V
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EXTL2

NM_001033025.3:p.G188V

Associated Papers

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_2

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

Romberg N et al.

Nature Genetics, 2014

25217960 (PubMed )
Supplement: NIHMS616064-supplement-1.pdf
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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."