Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.E1343del1
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RP1L1

NM_178857.6:p.E1343del1

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Xing D et al.

Bmc Ophthalmology, 2022

35870892 (PubMed )
Supplement: 12886_2022_2532_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

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095
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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."