Varaico: Literature-Extracted Genetic Variants

Gene:IFT172
Variant:p.C1727R
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IFT172

NM_015662.3:p.C1727R

Associated Papers

Kidney failure in Bardet-Biedl syndrome.

Meyer JR et al.

Clinical Genetics, 2022

Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

Jayasinghe K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32939031 (PubMed )
Supplement: 41436_2020_963_MOESM1_ESM.pdf

A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.

Lucas-Herald AK et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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."