Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.E373Splc
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STAMBP

NM_213622.4:p.E373Splc

Associated Papers

Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.

Gowda VK et al.

American Journal of Medical Genetics. Part A, 2026

Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation.

Hu M et al.

Frontiers in Neuroscience, 2022

Early‑onset epilepsy and microcephaly‑capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy.

Wu F et al.

Molecular Medicine Reports, 2019

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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."