Varaico: Literature-Extracted Genetic Variants

Gene:IFITM5
Variant:p.A129T
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IFITM5

NM_001025295.3:p.A129T

Associated Papers

The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.

Kuptanon C et al.

Bmc Medical Genetics, 2018

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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."