Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.Q380_D381Splc
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STXBP2

NM_001272034.2:p.Q380_D381Splc

Associated Papers

Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis.

Thadchanamoorthy V et al.

Bmc Medical Genomics, 2021

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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."