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5 articles related to "Insertion Variant"

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Articles

Original Research

Published on 20 Dec 2023

A novel PHKA2 variant in a Chinese boy with glycogen storage diseases type IXa

in Developmental Endocrinology

Hongdan Zhu
Tao Zhang
Hua Yuan
Yan Chen
Jinlong Ding
Haigang Ding
Xiaoliang Shi
Dalei Gu
Yingying Ma

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1332450

2,606 views
1 citation

Case Report

Published on 20 May 2022

Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene

in Genetics of Common and Rare Diseases

Feier Zeng
Huan Liu
Xuyang Xia
Yang Shu
Wei Cheng
Heng Xu
Geng Yin
Qibing Xie

Frontiers in Genetics

doi 10.3389/fgene.2022.814786

5,129 views
3 citations

Original Research

Published on 21 Jul 2020

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism

in Genetics of Common and Rare Diseases

Nousheen Bibi
Asmat Ullah
Lubna Darwesh
Waqas Khan
Tanzeela Khan
Kalim Ullah
Bushra Khan
Wasim Ahmad
Umm-e-Kalsoom

Frontiers in Genetics

doi 10.3389/fgene.2020.00749

7,442 views
8 citations

Original Research

Published on 08 Jul 2025

Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders

in Genetics of Common and Rare Diseases

Chen Liang
Haihong Shi
Yanjuan Chen
Xia Wang
Jieyuan Jin
Liqun Su
Lijun Tang
Huihong Li
Fei Ling
Haoxian Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1511796

2,610 views

Case Report

Published on 04 Apr 2019

Genetic Profile and Clinical Implications of Hepatoblastoma and Neuroblastoma Coexistence in a Child

in Cancer Genetics

Szymon Skoczen
Konrad Stepien
Marta Krzysztofik
Teresa Luszawska
Malgorzata Hnatko-Kolacz
Michal Korostynski
Marcin Piechota
Katarzyna Kolanek
Lukasz Wyrobek
Katarzyna Wysocka

Frontiers in Oncology

doi 10.3389/fonc.2019.00230

7,543 views
7 citations