Varaico: Literature-Extracted Genetic Variants

Gene:DSC3
Variant:p.V745_C746Splc
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DSC3

NM_001941.5:p.V745_C746Splc

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Patel N et al.

Clinical Genetics, 2018

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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."