Varaico: Literature-Extracted Genetic Variants

Gene:MYPN
Variant:p.L658Splc
Back to variants list

MYPN

NM_032578.4:p.L658Splc

Associated Papers

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.

Harikrishna GV et al.

Journal of Neuromuscular Diseases, 2024

Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review.

Polavarapu K et al.

Journal of Clinical Neurology (seoul, Korea), 2021

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."