Varaico: Literature-Extracted Genetic Variants

Gene:TMEM247
Variant:p.R129Q
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TMEM247

NM_001424184.1:p.R129Q

Associated Papers

Genetic profiling of synchronous pituitary corticotroph adenomas.

Zhang D et al.

Pituitary, 2025

40544420 (PubMed )
Supplement: 11102_2025_1549_MOESM3_ESM.xlsx › Suppl_Table3

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.

Liu Z et al.

Journal of Medical Genetics, 2022

33811136 (PubMed )
Supplement: jmedgenet-2020-107383supp002.xlsx › Supplementary_Table_xx

Analysis of the genomic landscape of yolk sac tumors reveals mechanisms of evolution and chemoresistance.

Zong X et al.

Nature Communications, 2021

34117242 (PubMed )
Supplement: 41467_2021_23681_MOESM5_ESM.xlsx › Sheet1

Primary ciliated muconodular papillary tumor: A rare pulmonary disease and literature review of 65 cases.

Wang Y et al.

Thoracic Cancer, 2021

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM6_ESM.xlsx › Unpaired_Mutations_GBC

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL et al.

Nature Communications, 2018

30315159 (PubMed )
Supplement: 41467_2018_6713_MOESM5_ESM.xlsx › Supplementary_Data_2
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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."