Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.K328_E329delFs
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IGHMBP2

NM_002180.3:p.K328_E329delFs

Associated Papers

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.

Kulsirichawaroj P et al.

Pediatric Research, 2025

40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM3_ESM.pdf

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary

Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.

Kulsirichawaroj P et al.

Journal of Neuromuscular Diseases, 2024

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

Pedurupillay CR et al.

Neuromuscular Disorders : Nmd, 2016

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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."