Varaico: Literature-Extracted Genetic Variants

Gene:MED1
Variant:p.K686Q
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MED1

NM_004774.4:p.K686Q

Associated Papers

Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

Muncke N et al.

Circulation, 2003

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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."