Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.A99G
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STAMBP

NM_213622.4:p.A99G

Associated Papers

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

Gowda VK et al.

American Journal of Medical Genetics. Part A, 2026

STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy.

Anand V et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 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."