Varaico: Literature-Extracted Genetic Variants

Gene:LMBRD1
Variant:p.Y398H
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LMBRD1

NM_018368.4:p.Y398H

Associated Papers

MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans.

Sha X et al.

Cell Death Discovery, 2025

40593474 (PubMed )
Supplement: 41420_2025_2581_MOESM1_ESM.docx

Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.

Que Y et al.

Journal of Translational Medicine, 2024

39633439 (PubMed )
Supplement: 12967_2024_5921_MOESM7_ESM.xlsx › 11newmerge

Identification of potential causal variants for premature ovarian failure by whole exome sequencing.

Jin H et al.

Bmc Medical Genomics, 2020

33109206 (PubMed )
Supplement: 12920_2020_813_MOESM1_ESM.xlsx › Table_S4

Chorea Hyperglycemia Basal Ganglia Syndrome in a Young Patient with Type 1 Diabetes Mellitus: a Case Report.

Choi S et al.

Brain & Neurorehabilitation, 2020

Germline mutations causing familial lung cancer.

Tomoshige K et al.

Journal of Human Genetics, 2015

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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."