Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S6
Variant:p.T75Splc
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BLOC1S6

NM_012388.4:p.T75Splc

Associated Papers

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Bobreshova AM et al.

International Journal of Molecular Sciences, 2024

The diagnostic utility of exome-based carrier screening in families with a positive family history.

Kotecha UH et al.

American Journal of Medical Genetics. Part A, 2022

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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."