Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.H70Q
Back to variants list

SORD

NM_003104.6:p.H70Q

Associated Papers

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

Arlt A et al.

Journal of Neurogenetics, 2024

Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.

Li L et al.

Journal of the Peripheral Nervous System : Jpns, 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."