Varaico: Literature-Extracted Genetic Variants

Gene:DLG5
Variant:p.R1072C
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DLG5

NM_004747.4:p.R1072C

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10489.xls › SNVIndel

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.

Marquez J et al.

Journal of Medical Genetics, 2021

[Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].

PFANDLER U

Bulletin Der Schweizerischen Akademie Der Medizinischen Wissenschaften, 1950

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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."