Varaico: Literature-Extracted Genetic Variants

Gene:TMEM67
Variant:p.V217_G218Splc
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TMEM67

NM_153704.6:p.V217_G218Splc

Associated Papers

[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL].

Aalimi U et al.

Harefuah, 2015

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Khaddour R et al.

Human Mutation, 2007

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Baala L et al.

American Journal of Human Genetics, 2007

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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."