Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.R1238C
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COL4A1

NM_001845.6:p.R1238C

Associated Papers

Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.

Aypek H et al.

Renal Failure, 2025

41032671 (PubMed )
Supplement: IRNF_A_2547306_SM0962.docx

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

Identification of Possible Risk Variants of Familial Strabismus Using Exome Sequencing Analysis.

An JY et al.

Genes, 2021

Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.

Rannikmäe K et al.

Stroke, 2020

32842921 (PubMed )
Supplement: str_stroke-2020-029517_supp1.pdf

Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.

Mishra A et al.

Brain : a Journal of Neurology, 2019

30859180 (PubMed )
Supplement: awz024_supplementary_text.pdf

Age-related mutations and chronic myelomonocytic leukemia.

Mason CC et al.

Leukemia, 2016

26648538 (PubMed )
Supplement: 41375_2016_BFleu2015337_MOESM120_ESM.xlsx › ST10

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

Decio A et al.

American Journal of Medical Genetics. Part A, 2015

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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."