Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.L2177S
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RP1L1

NM_178857.6:p.L2177S

Associated Papers

Identification of biallelic variations of CEP70 in patients with male infertility.

Ruan T et al.

Frontiers in Endocrinology, 2023

36967801 (PubMed )
Supplement: Table_2.xlsx › Patient_1

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J et al.

International Journal of Molecular Sciences, 2021

33546218 (PubMed )
Supplement: ijms-22-01508-s001.zip › Supplementary_Files › Supplementary_Table_S1_Candidate_variants_undiagnosed_cases.xlsx › Supplementary_table_2

Identification of somatic alterations in lipoma using whole exome sequencing.

Kanojia D et al.

Scientific Reports, 2019

31591430 (PubMed )
Supplement: 41598_2019_50805_MOESM2_ESM.xlsx › SuppTable_10

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_22
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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."