Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.D1889V
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RP1L1

NM_178857.6:p.D1889V

Associated Papers

Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Dai J et al.

Journal for Immunotherapy of Cancer, 2023

36593066 (PubMed )
Supplement: jitc-2022-005937supp007.xls › Supplemental_Table_3

DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics.

Wang WC et al.

Human Genomics, 2022

36289533 (PubMed )
Supplement: 40246_2022_424_MOESM1_ESM.xlsx › ___1

Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.

Secolin R et al.

Frontiers in Genetics, 2021

33841501 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Data_2

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf
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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."