Varaico: Literature-Extracted Genetic Variants

Gene:ASPM
Variant:p.Q2739fs
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ASPM

NM_018136.5:p.Q2739fs

Associated Papers

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.

Xue H et al.

Scientific Reports, 2024

The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM.

Wu X et al.

Frontiers in Neuroscience, 2023

[Diagnosis and counseling for a Chinese pedigree affected with autosomal recessive primary microcephaly 5 due to variants of ASPM gene].

Zhang Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."