Varaico: Literature-Extracted Genetic Variants

Gene:MYLK
Variant:p.P443S
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MYLK

NM_053025.4:p.P443S

Associated Papers

[Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].

Yu C et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2020

Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.

Bae J et al.

Endocrinology and Metabolism (seoul, Korea), 2018

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

van de Luijtgaarden KM et al.

Human Genetics, 2015

26017485 (PubMed )
Supplement: 439_2015_1567_MOESM1_ESM.docx

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Wang J et al.

Genome Medicine, 2015

26338694 (PubMed )
Supplement: 13073_2015_207_MOESM1_ESM.xlsx › S1

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s015.xlsx › AdditionalFile.ACMGrecommendedG
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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."