Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.G354Splc
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IGHMBP2

NM_002180.3:p.G354Splc

Associated Papers

Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

Liu Y et al.

Frontiers in Genetics, 2021

Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

Liu X et al.

European Journal of Neurology, 2020

An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).

Wu S et al.

European Journal of Medical Genetics, 2018

IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.

Liu L et al.

Neuromuscular Disorders : Nmd, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."