Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN2
Variant:p.L42L
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GEMIN2

NM_003616.3:p.L42L

Associated Papers

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

Burzynski GM et al.

European Journal of Human Genetics : Ejhg, 2004

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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."