Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.D213delFs
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SBDS

NM_016038.4:p.D213delFs

Associated Papers

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication.

Wang L et al.

Experimental Biology and Medicine (maywood, N.j.), 2024

[Clinical features and gene mutations of children with Shwachman-Diamond syndrome and malignant myeloid transformation].

An WB et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020

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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."