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5 articles related to "Non Sense Mutation"

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Articles

Case Report

Published on 24 Apr 2019

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency

in Neurogenetics

Salam Massadeh
Muhammad Umair
Manal Alaamery
Majid Alfadhel

Frontiers in Neurology

doi 10.3389/fneur.2019.00411

11,098 views
10 citations

Original Research

Published on 22 Jun 2022

OsVIT2 Mutation Increases Fe and Zn of Grain Without Compromising the Growth in Paddy Field

in Plant Nutrition

Prashant Kandwal
Toru Fujiwara
Takehiro Kamiya

Frontiers in Plant Science

doi 10.3389/fpls.2022.868661

4,671 views
5 citations

Case Report

Published on 14 Jul 2025

Case Report: A novel compound heterozygosity of the EVC2 gene identified in a Chinese pedigree with congenital heart defect

in Pediatric Cardiology

Xiayuan Xu
Chengcheng Gao
Keqin Jin
Liping Zhang
Yanfen Yang
Jun Zhang
Yun Ye
Shuangshuang Shen

Frontiers in Pediatrics

doi 10.3389/fped.2025.1352571

1,508 views

Case Report

Published on 26 Jan 2026

Case Report: Budd–Chiari-like syndrome in a cat with polycystic kidney and liver disease

in Veterinary Clinical, Anatomical, and Comparative Pathology

Eun-Soo Lee
Yoon-Seok Jang
Jae-Il Han
Tae-Rin Kim
Jae-Hwan Kim
Jae-Eun Hyun

Frontiers in Veterinary Science

doi 10.3389/fvets.2025.1701832

830 views

Original Research

Published on 25 Jun 2021

Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen

in Precision Medicine

Zuhier Ahmed Awan
Omran M. Rashidi
Bandar Ali Al-Shehri
Kaiser Jamil
Ramu Elango
Jumana Y. Al-Aama
Robert A. Hegele
Babajan Banaganapalli
Noor A. Shaik

Frontiers in Medicine

doi 10.3389/fmed.2021.694668

6,029 views
15 citations