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Karol Rubin
Karol Rubin
University of Minnesota
Biology
Genetics
Missense mutation
Phenotype
Mutation
5
Papers
214
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An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy
2018
American Journal of Medical Genetics Part A
Leslie E. W. LaConte
Vrushali Chavan
Stephanie DeLuca
Karol Rubin
Jessica Malc
Susan A. Berry
C. Gail Summers
Konark Mukherjee
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Citations (8)
Deletion and duplication of 11p13‐11p14: Reciprocal aberrations derived from a paternal insertion
2011
American Journal of Medical Genetics Part A
Michelle M Dolan
Susan A. Berry
Karol Rubin
Betsy A. Hirsch
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Citations (3)
1