Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.A1295V
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CMYA5

NM_153610.5:p.A1295V

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.

Ibrahim TAM et al.

Journal of Diabetes Research, 2025

41376825 (PubMed )
Supplement: 3346256.f1.pdf

Genetic Factors in Rasmussen's Encephalitis Characterized by Whole-Exome Sequencing.

Ai J et al.

Frontiers in Neuroscience, 2021

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

Torella A et al.

Plos One, 2013

23667635 (PubMed )
Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all

Gene polymorphism of myospryn (cardiomyopathy-associated 5) is associated with left ventricular wall thickness in patients with hypertension.

Nakagami H et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2007

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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."