Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E100D
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DES

NM_001927.4:p.E100D

Associated Papers

[Oxycepaaly and corneal dystrophy in a patient with Turner's syndrome].

Calmettes L et al.

Bulletin Des Societes D'ophtalmologie De France, 1968

[Alport's syndrome: a family case].

Calmettes L et al.

Bulletin Des Societes D'ophtalmologie De France, 1968

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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."