Varaico: Literature-Extracted Genetic Variants

Gene:TMEM67
Variant:p.F343V
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TMEM67

NM_153704.6:p.F343V

Associated Papers

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.

Ahmed M et al.

Nature Communications, 2025

Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesis.

Ahmed M et al.

Biorxiv : the Preprint Server for Biology, 2024

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.

Bui TPH et al.

Bmc Medical Genetics, 2020

Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.

Rasmussen M et al.

Clinical Genetics, 2018

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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."