Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.E305fs
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LMAN1

NM_005570.4:p.E305fs

Associated Papers

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

A distinct common p.Gln317* mutation among causative LMAN1 genetic mutations of combined factor V and factor VIII deficiency in five Taiwanese families.

Lin HY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Preisler B et al.

Journal of Clinical Medicine, 2021

Low factor V level ameliorates bleeding diathesis in patients with combined deficiency of factor V and factor VIII.

Shao Y et al.

Blood, 2019

Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.

Pareja F et al.

Nature Communications, 2018

30166553 (PubMed )
Supplement: 41467_2018_5886_MOESM1_ESM.pdf
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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."