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Supplement: 41598_2025_549_MOESM4_ESM.xlsx › Sheet_1
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
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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.
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Plos One, 2021
34855882 (PubMed )
Supplement: pone.0260852.s015.xlsx › iD133G_1
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