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Open access

Case report

First published 2022-1

Cochlear implantation in a Chinese patient with a novel frameshift variant in POU3F4 gene and incomplete partition type III: a case report

Lanye Hu, Jie Chen, Ruen Yao [...]

Journal of International Medical Research

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Research article

First published 2023-8

SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome

Zulvikar Syambani Ulhaq, Gita Vita Soraya, Lola Ayu Istifiani [...]

The Cleft Palate Craniofacial Journal

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Brief report

First published 2026

Novel frameshift variant in exon 7 of COL17A1 in a domestic shorthair kitten with junctional epidermolysis bullosa

Devin Fussell, Meghan Leber, Michael W. Vandewege [...]

Journal of Veterinary Diagnostic Investigation

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Research article

First published 2025-12

A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family

Jianping Zhang, Yijia Zhao, Yueyuan Lan [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2021-5

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 ( RLBP1 ) gene causes retinitis punctata albescens

Sónia Torres-Costa, Carla Sofia Ferreira, Ana Grangeia [...]

European Journal of Ophthalmology

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Research article

First published 2019-06

Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes

Jeong Hun Jang, Jayoung Oh, Jin Hee Han [...]

Genetic Testing and Molecular Biomarkers

Free access

Case report

First published 2022

A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report

Vincenzo Montano, Michelangelo Mancuso, Costanza Simoncini [...]

Journal of Neuromuscular Diseases

Open access

Case report

First published 2023-6

Atypical Hemolytic-uremic Syndrome with Postrenal Transplant Recurrence Due to a Novel Frameshift Variant in Complement Factor H

Surya Balakrishnan, Satyanarayana Garre

Apollo Medicine

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Research article

First published 2025-04

Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly,Polydactyly,and Aplasia Cutis Congenita: A Short Report and a Review of the Literature

Khurram Liaqat, Kimberly Felipe, Kayla Treat [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2019-07

Identification of Rare Variants Predisposing to Thyroid Cancer

Yanqiang Wang, Sandya Liyanarachchi, Katherine E. Miller [...]

Thyroid®

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