Varaico: Literature-Extracted Genetic Variants

Gene:CAST
Variant:p.R169_S170insFs
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CAST

NM_001750.7:p.R169_S170insFs

Associated Papers

PLACK syndrome resulting from a novel homozygous variant in CAST.

Boggs JME et al.

Pediatric Dermatology, 2021

PLACK syndrome shows remarkable phenotypic homogeneity.

Mohamad J et al.

Clinical and Experimental Dermatology, 2019

PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene.

Vidya AS et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients.

Haxho F et al.

Pediatric Dermatology, 0

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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."