Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S3
Variant:p.L167F
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BLOC1S3

NM_212550.5:p.L167F

Associated Papers

Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.

Zafar A et al.

International Journal of Molecular Sciences, 2025

40141357 (PubMed )
Supplement: ijms-26-02715-s001.zip › Table_S2.pdf
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