Varaico: Literature-Extracted Genetic Variants

Gene:DCHS1
Variant:p.P197L
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DCHS1

NM_003737.4:p.P197L

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.

Sotos J et al.

International Journal of Pediatric Endocrinology, 2017

Mutations in DCHS1 cause mitral valve prolapse.

Durst R et al.

Nature, 2015

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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."