Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R379insFs
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FKRP

NM_024301.5:p.R379insFs

Associated Papers

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Marchant RG et al.

Annals of Clinical and Translational Neurology, 2024

38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1

Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Zhang X et al.

Ebiomedicine, 2022

35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Song D et al.

Clinical Genetics, 2021

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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."