Kathleen Sullivan to Mutation, Missense
This is a "connection" page, showing publications Kathleen Sullivan has written about Mutation, Missense.
Connection Strength
0.237
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Bedoukian EC, Rentas S, Skraban C, Shao Q, Treat J, Laird DW, Sullivan KE. Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant. Mol Genet Genomic Med. 2021 02; 9(2):e1574.
Score: 0.166
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Li D, Mailand N, Ewing E, Hoffmann S, Caswell RC, Pang L, Eason J, Dou Y, Sullivan KE, Hakonarson H, Levine MA. Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis. JCI Insight. 2025 Mar 24; 10(6).
Score: 0.055
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Heltzer ML, Choi JK, Ochs HD, Sullivan KE, Torgerson TR, Ernst LM. A potential screening tool for IPEX syndrome. Pediatr Dev Pathol. 2007 Mar-Apr; 10(2):98-105.
Score: 0.016