Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.A350V
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STXBP2

NM_006949.4:p.A350V

Associated Papers

Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review.

Li J et al.

Frontiers in Pediatrics, 2023

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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."