Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis.

IF 1.2 4区医学 Q4 GENETICS & HEREDITY Ophthalmic Genetics Pub Date : 2024-10-01 Epub Date: 2024-05-20 DOI:10.1080/13816810.2024.2352377

Rola Ba-Abbad

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重新审视视网膜色素变性家族的分子诊断：整合深度表型和生物信息分析。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.

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