Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.G100S
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SLC45A2

NM_016180.5:p.G100S

Associated Papers

Clear Cell Papillary Renal Cell Carcinoma Shares Distinct Molecular Characteristics and may be Significantly Associated With Higher Risk of Developing Second Primary Malignancy.

Tian X et al.

Pathology Oncology Research : Por, 2021

34512202 (PubMed )
Supplement: Table1.XLSX › SNV_prediction

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N et al.

Frontiers in Genetics, 2020

32849781 (PubMed )
Supplement: Data_Sheet_2.docx

Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.

Reinders A et al.

Molecular Medicine Reports, 2015

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

Mauri L et al.

Gene, 2014

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

Hutton SM et al.

The Journal of Investigative Dermatology, 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."