Varaico: Literature-Extracted Genetic Variants

Gene:CRPPA
Variant:p.G55insFs
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CRPPA

NM_001101426.4:p.G55insFs

Associated Papers

A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the CRPPA gene: a case report and literature review.

Zhang S et al.

Translational Pediatrics, 2025

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

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K et al.

Skeletal Muscle, 2018

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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."