Associated Papers
Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.
Ozgencil M et al.
Plos One, 2021
34855882 (PubMed )
Supplement: pone.0260852.s015.xlsx › iG462R_1
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Kubo A et al.
American Journal of Human Genetics, 2013
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