Varaico: Literature-Extracted Genetic Variants

Gene:ERI1
Variant:p.K118*
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ERI1

NM_153332.4:p.K118*

Associated Papers

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Guo L et al.

American Journal of Human Genetics, 2023

ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities.

Hoxha V et al.

American Journal of Medical Genetics. Part A, 2023

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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."