Varaico: Literature-Extracted Genetic Variants

Gene:RETREG1
Variant:p.D272D
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RETREG1

NM_001034850.3:p.D272D

Associated Papers

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.

Saveri P et al.

Cells, 2020

32326241 (PubMed )
Supplement: cells-09-01028-s001.zip › Table_S3.xlsx › 2449_S14_L001_annot_extract.tab

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity.

Kubara K et al.

Stem Cell Reports, 2018

29983389 (PubMed )
Supplement: mmc2.xlsx › Sheet2

Identification of Novel FAM134B (JK1) Mutations in Oesophageal Squamous Cell Carcinoma.

Haque MH et al.

Scientific Reports, 2016

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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."