Varaico: Literature-Extracted Genetic Variants

Gene:MTUS1
Variant:p.P503R
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MTUS1

NM_001363059.2:p.P503R

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.

Loeuillet C et al.

Clinical Genetics, 2022

35460069 (PubMed )
Supplement: CGE-102-22-s001.xlsx › Feuil1

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_1

SeqHBase: a big data toolset for family based sequencing data analysis.

He M et al.

Journal of Medical Genetics, 2015

25587064 (PubMed )
Supplement: jmedgenet-2014-102907-s1.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."