Varaico: Literature-Extracted Genetic Variants

Gene:NEXMIF
Variant:p.S677*
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NEXMIF

NM_001008537.3:p.S677*

Associated Papers

Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.

Zhu Y et al.

Frontiers in Medicine, 2026

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Abul-Husn NS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Abul-Husn NS et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Detection of mosaic variants using genome sequencing in a large pediatric cohort.

Odgis JA et al.

American Journal of Medical Genetics. Part A, 2023

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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."