Varaico: Literature-Extracted Genetic Variants

Gene:MAML3
Variant:p.Q507_Q509del0
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MAML3

NM_018717.5:p.Q507_Q509del0

Associated Papers

Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.

López-Cortés A et al.

Bmc Medical Genomics, 2020

32807182 (PubMed )
Supplement: 12920_2020_764_MOESM4_ESM.xlsx › Table_S4
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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."