Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L4A
Variant:p.R610*
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EPB41L4A

NM_022140.5:p.R610*

Associated Papers

A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families.

Veyssiere M et al.

Plos One, 2019

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Griswold AJ et al.

Molecular Autism, 2015

26185613 (PubMed )
Supplement: 13229_2015_34_MOESM3_ESM.xlsx › Sheet1
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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."