Varaico: Literature-Extracted Genetic Variants

Gene:TRPM1
Variant:p.L138P
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TRPM1

NM_001252024.2:p.L138P

Associated Papers

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.

Zaslavsky K et al.

Investigative Ophthalmology & Visual Science, 2025

41342616 (PubMed )
Supplement: iovs-66-15-19_s002.xlsx › SuppTable3

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

Katta M et al.

Ophthalmology. Retina, 2024

38522615 (PubMed )
Supplement: mmc11.pdf

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1
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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."