Additional file 2 of A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome
Li, Sijun; Qin, Mengyao; Mao, Shuang; Mei, Lingyun; Cai, Xinzhang; Feng, Yong; He, Chufeng; +1 Authors
Li, Sijun; Qin, Mengyao; Mao, Shuang; Mei, Lingyun; Cai, Xinzhang; Feng, Yong; He, Chufeng; Song, Jian;
Additional file 2 of A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome
Additional file 2: Fig. S2. The schematic representation and protein conservativeness analysis of the localization of two new missense mutations. A. The PAX3 gene mutation detected in the S-4.The variant c.214A>G(p.Ile72Val) represented in red is a novel mutation.The mutation site was conservative among multiple species. PBD: pair box domain;HD: HMG domain. B. The MITF gene mutation detected in the S-7.The variant c.626A>T(p.His209Leu) represented in red is a novel mutation.The mutation site was conservative among multiple species. Basic: Basic domain; HLH: Helix-Loop-Helix domain; LZ: Leucine zipper domain.
- Xiangya Hospital Central South University China (People's Republic of)
- The First People's Hospital of Changde China (People's Republic of)
- Changsha Central Hospital China (People's Republic of)
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).0 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
citations
Citations provided by BIP!
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Citations provided by BIP!popularityPopularity provided by BIP!
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
Popularity provided by BIP! 0
Average
Average
Average
Green
Related to Research communities