Varaico: Literature-Extracted Genetic Variants

Gene:CAST
Variant:p.S154fs
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CAST

NM_001750.7:p.S154fs

Associated Papers

Severe Dilated Cardiomyopathy with PLACK Syndrome Caused by a Novel Truncating Variant in the CAST Gene.

Alkorashy M et al.

Genes, 2025

41300744 (PubMed )
Supplement: genes-16-01292-s001.zip › genes-3956614-supplementary.pdf

PLACK syndrome shows remarkable phenotypic homogeneity.

Mohamad J et al.

Clinical and Experimental Dermatology, 2019

PLACK syndrome resulting from a new homozygous insertion mutation in CAST.

Alkhalifah A et al.

Journal of Dermatological Science, 2017

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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