Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.T68Splc
Back to variants list

STAMBP

NM_213622.4:p.T68Splc

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."