Varaico: Literature-Extracted Genetic Variants

Gene:NSDHL
Variant:p.K263_A264Splc
Back to variants list

NSDHL

NM_015922.3:p.K263_A264Splc

Associated Papers

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing.

Zhuang J et al.

European Journal of Medical Research, 2025

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."