Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis
通过鉴定和功能表征顺式遗传的复合杂合突变和双突变，深入了解罕见错义GCK变异的致病性
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影响因子:
doi:10.2337/dc11-2420
Beer, Nicola L; Osbak, Kara K; van de Bunt, Martijn; Tribble, Nicholas D; Steele, Anna M; Wensley, Kirsty J; Edghill, Emma L; Colcough, Kevin; Barrett, Amy; Valentínová, Lucia; Rundle, Jana K; Raimondo, Anne; Grimsby, Joseph; Ellard, Sian; Gloyn, Anna L
