Varaico: Literature-Extracted Genetic Variants

Gene:LMBRD1
Variant:p.E446_T447Splc
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LMBRD1

NM_018368.4:p.E446_T447Splc

Associated Papers

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Huang X et al.

Orphanet Journal of Rare Diseases, 2022

35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign

Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.

Gingras MC et al.

Life Science Alliance, 2021

34301805 (PubMed )
Supplement: LSA-2020-00941_TableS4.xlsx › Table_S4
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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."