Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G764D
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COL4A1

NM_001845.6:p.G764D

Associated Papers

A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts.

Yakabe A et al.

Human Genome Variation, 2022

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Baldridge D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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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."