Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A5
Variant:p.L454insFs
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SLC24A5

NM_205850.3:p.L454insFs

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_1.pdf

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.

Zhang Y et al.

The Journal of Dermatology, 2019

Increasing the complexity: new genes and new types of albinism.

Montoliu L et al.

Pigment Cell & Melanoma Research, 2014

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.

Wei AH et al.

The Journal of Investigative Dermatology, 2013

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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."