Varaico: Literature-Extracted Genetic Variants

Gene:MUSK
Variant:p.Y803C
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MUSK

NM_005592.4:p.Y803C

Associated Papers

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.

Drexler KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Vora NL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."