A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2022-04-23 DOI:10.1007/s10048-022-00692-7

A. Ullah, J. Krishin, N. Haider, Brekhna Aurangzeb, Abdullah, Sufyan Suleman, W. Ahmad, T. Hansen, S. Basit

引用次数: 3

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EXOC8的一种新的无义变体是神经发育障碍的基础

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来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.