Varaico: Literature-Extracted Genetic Variants

Gene:SYNE1
Variant:p.L1582F
Back to variants list

SYNE1

NM_033071.5:p.L1582F

Associated Papers

Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families.

Xu L et al.

Frontiers in Genetics, 2022

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1

Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death.

Lin Y et al.

Journal of Electrocardiology, 0

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."