A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology

IF 2.9 3区医学 Q2 DERMATOLOGY

Journal of Dermatology Pub Date : 2024-07-04 DOI:10.1111/1346-8138.17367

Tatsuhiro Noda, Takuya Takeichi, Kana Tanahashi, Yoshinao Muro, Masashi Akiyama

引用次数: 0

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一例患有 KRT16 Arg127 热点变异的先天性软骨畸形病例：利用 AlphaMissense 技术评估疾病严重程度。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Dermatology 医学-皮肤病学

CiteScore

4.60

自引率

9.70%

发文量

368

审稿时长

4-8 weeks

期刊介绍： The Journal of Dermatology is the official peer-reviewed publication of the Japanese Dermatological Association and the Asian Dermatological Association. The journal aims to provide a forum for the exchange of information about new and significant research in dermatology and to promote the discipline of dermatology in Japan and throughout the world. Research articles are supplemented by reviews, theoretical articles, special features, commentaries, book reviews and proceedings of workshops and conferences. Preliminary or short reports and letters to the editor of two printed pages or less will be published as soon as possible. Papers in all fields of dermatology will be considered.