Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A6
Variant:p.L1001L
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SLC12A6

NM_001365088.1:p.L1001L

Associated Papers

Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.

Bogusławska DM et al.

Biomedicines, 2025

40002721 (PubMed )
Supplement: biomedicines-13-00308-s001.zip › biomedicines-3431635_Additional_file_2-xml.xlsx › AM_membranopathies

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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