Varaico: Literature-Extracted Genetic Variants

Gene:NPIPA5
Variant:p.R269C
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NPIPA5

NM_001277325.2:p.R269C

Associated Papers

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_2a

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Lin PC et al.

Molecular Genetics & Genomic Medicine, 2020

32160409 (PubMed )
Supplement: MGG3-8-e1220-s001.xlsx › ___1

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2

The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing.

Ye L et al.

Nature Communications, 2017

28580939 (PubMed )
Supplement: ncomms15533-s4.xlsx › mutation_list
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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."