Varaico: Literature-Extracted Genetic Variants

Gene:IFT172
Variant:p.R296W
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IFT172

NM_015662.3:p.R296W

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.

Melendez-Montañez JM et al.

Genes, 2024

38674329 (PubMed )
Supplement: genes-15-00394-s001.zip › Table_S1.pdf

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J et al.

American Journal of Human Genetics, 2013

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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."