JAMES LUPSKI to Blepharophimosis
This is a "connection" page, showing publications JAMES LUPSKI has written about Blepharophimosis.
Connection Strength
0.443
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Response to Biesecker et?al. Am J Hum Genet. 2021 09 02; 108(9):1807-1808.
Score: 0.179
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347.
Score: 0.164
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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet. 2013; 9(3):e1003358.
Score: 0.100