Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R1066H
Back to variants list

SMC1A

NM_006306.4:p.R1066H

Associated Papers

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

Zou H et al.

Frontiers in Genetics, 2024

39906551 (PubMed )
Supplement: Table1.xlsx › Table_S2

Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.

Yao R et al.

Frontiers in Genetics, 2021

34992632 (PubMed )
Supplement: Table3.XLSX › Sheet1

EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53.

Bogusz AM

Case Reports in Hematology, 2017

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."