Varaico: Literature-Extracted Genetic Variants

Gene:TMEM38B
Variant:p.Q248*
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TMEM38B

NM_018112.3:p.Q248*

Associated Papers

Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort.

Gupta N et al.

Prenatal Diagnosis, 2025

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing.

Yang K et al.

Biomed Research International, 2019

31218223 (PubMed )
Supplement: 2492590.f1.zip › 2492590.f1 › Supplementary_Material_2-molecular_data.doc
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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."