Varaico: Literature-Extracted Genetic Variants

Gene:RIT1
Variant:p.K23Q
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RIT1

NM_006912.6:p.K23Q

Associated Papers

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.

Tamburrino F et al.

Frontiers in Endocrinology, 2024

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

Faas BHW et al.

Prenatal Diagnosis, 2023

Genomic diagnosis for children with intellectual disability and/or developmental delay.

Bowling KM et al.

Genome Medicine, 2017

28554332 (PubMed )
Supplement: 13073_2017_433_MOESM2_ESM.xlsx › Sheet1
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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."