Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.P1243L
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GLI2

NM_001371271.1:p.P1243L

Associated Papers

Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.

Corder ML et al.

American Journal of Medical Genetics. Part A, 2022

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

Rahimov F et al.

American Journal of Medical Genetics. Part A, 2006

Holoprosencephaly: clinical, anatomic, and molecular dimensions.

Cohen MM

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006

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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."