Varaico: Literature-Extracted Genetic Variants

Gene:NSDHL
Variant:p.Y349S
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NSDHL

NM_015922.3:p.Y349S

Associated Papers

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.

Zhuang J et al.

Molecular Genetics & Genomic Medicine, 2023

Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Vela V et al.

Virchows Archiv : an International Journal of Pathology, 2022

34494161 (PubMed )
Supplement: 428_2021_3186_MOESM21_ESM.xlsx › Supplementary_Table_8

Mild clinical presentation of a patient with a mutation in the NSDHL gene.

Ormerod E et al.

Clinical and Experimental Dermatology, 2019

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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."