Varaico: Literature-Extracted Genetic Variants

Gene:STAMBP
Variant:p.E373Splc
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STAMBP

NM_213622.4:p.E373Splc

Associated Papers

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.

Hori I et al.

Journal of Human Genetics, 2018

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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."