Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L1
Variant:p.R638C
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EPB41L1

NM_012156.2:p.R638C

Associated Papers

Phenotypic expansion illuminates multilocus pathogenic variation.

Karaca E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29790871 (PubMed )
Supplement: NIHMS940738-supplement-Table_S1.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."