Varaico: Literature-Extracted Genetic Variants

Gene:CST6
Variant:p.L22P
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CST6

NM_001323.4:p.L22P

Associated Papers

Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.

Wang X et al.

Clinical Genetics, 2023

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.

Eckl KM et al.

Frontiers in Genetics, 2021

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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."