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2 articles related to "Clinical And Genetic Variability"

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Articles

Mini Review

Published on 24 Jan 2022

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

in Cellular Endocrinology

Mirjana Kocova
Paola Concolino
Henrik Falhammar

Frontiers in Endocrinology

doi 10.3389/fendo.2021.788812

7,830 views
12 citations

Original Research

Published on 24 Jun 2024

A rare missense p.C125Y mutation in the TNFRSF1A gene identified in a Chinese family with tumor necrosis factor receptor-associated periodic fever syndrome

in Statistical Genetics and Methodology

Mengqing Qian
Jingyu Zhou
Jing Wu
Haocheng Zhang
Shenglei Yu
Haoxin Xu
Yixuan Yang
Feiran Zhou
Qingluan Yang
Lingyun Shao

Frontiers in Genetics

doi 10.3389/fgene.2024.1413641

3,861 views