Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.E532_M544delFs
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SPTBN2

NM_006946.4:p.E532_M544delFs

Associated Papers

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Yıldız Bölükbaşı E et al.

American Journal of Medical Genetics. Part A, 2017

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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."