DEBORAH RITTER to Abnormalities, Multiple
This is a "connection" page, showing publications DEBORAH RITTER has written about Abnormalities, Multiple.
Connection Strength
0.260
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Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar. Cancer Genet. 2025 Sep; 296-297:84-87.
Score: 0.152
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Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 08 01; 126(8):2881-92.
Score: 0.082
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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 02; 22(2):245-257.
Score: 0.026