Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.G2V
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GPR50

NM_004224.3:p.G2V

Associated Papers

Mutational signatures in GATA3 transcription factor and its DNA binding domain that stimulate breast cancer and HDR syndrome.

El-Assaad A et al.

Scientific Reports, 2021

Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.

Chen B et al.

Human Reproduction (oxford, England), 2017

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.

Shao Q et al.

Molecular Biology of the Cell, 2012

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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."