Varaico: Literature-Extracted Genetic Variants

Gene:INVS
Variant:p.G266Splc
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INVS

NM_014425.5:p.G266Splc

Associated Papers

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.

Lemberg K et al.

Kidney International Reports, 2025

41141495 (PubMed )
Supplement: mmc1.pdf

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.

Qin Y et al.

Bmc Medical Genomics, 2023

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis.

Somashekar PH et al.

Gene, 2020

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