Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.H440L
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RP1L1

NM_178857.6:p.H440L

Associated Papers

A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.

Pourebrahim K et al.

The Journal of Cardiovascular Aging, 2021

34790974 (PubMed )
Supplement: NIHMS1739287-supplement-Supplementary_Material.pdf

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC8_ERR166330
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