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Amino acid sequence change associated with genetic marker Inv(2) of human immunoglobulin

✍ Scribed by MILSTEIN, CELIA P.; STEINBERG, A. G.; MCLAUGHLIN, CARLA L.; SOLOMON, A.


Book ID
109689607
Publisher
Nature Publishing Group
Year
1974
Tongue
English
Weight
229 KB
Volume
248
Category
Article
ISSN
0028-0836

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The inclusion of a mutation in a pathology-based database such as the Human Gene Mutation Database (HGMD) is a two-stage process: first, the mutation must occur at the DNA level, then it must cause a clinically detectable disease state. The likelihood of the latter step, termed the relative clinical