Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.S627S
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MERTK

NM_006343.3:p.S627S

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete

Association between Genetic Variations of MERTK and Chronic Obstructive Pulmonary Disease in Koreans.

Kim WJ et al.

Journal of Korean Medical Science, 2018

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.

Brea-Fernández AJ et al.

The British Journal of Ophthalmology, 2008

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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."