Varaico: Literature-Extracted Genetic Variants

Gene:IFT172
Variant:p.L1513_C1514Splc
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IFT172

NM_015662.3:p.L1513_C1514Splc

Associated Papers

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

Peng Y et al.

Bmc Medical Genomics, 2023

Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases.

Peng Y et al.

Frontiers in Genetics, 2021

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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."