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KIF21-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 6:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Updated resources for exploring experimentally-determined PDB structures and Computed Structure Models at the RCSB Protein Data Bank.
Burley SK, Bhatt R, Bhikadiya C, Bi C, Biester A, Biswas P, Bittrich S, Blaumann S, Brown R, Chao H, Chithari VR, Craig PA, Crichlow GV, Duarte JM, Dutta S, Feng Z, Flatt JW, Ghosh S, Goodsell DS, Green RK, Guranovic V, Henry J, Hudson BP, Joy M, Kaelber JT, Khokhriakov I, Lai JS, Lawson CL, Liang Y, Myers-Turnbull D, Peisach E, Persikova I, Piehl DW, Pingale A, Rose Y, Sagendorf J, Sali A, Segura J, Sekharan M, Shao C, Smith J, Trumbull M, Vallat B, Voigt M, Webb B, Whetstone S, Wu-Wu A, Xing T, Young JY, Zalevsky A, Zardecki C. Burley SK, et al. Among authors: chao h. Nucleic Acids Res. 2024 Nov 28:gkae1091. doi: 10.1093/nar/gkae1091. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39607707
1,977 results