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Keywords: MEGF8
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Journal Articles
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly
Available to PurchaseSubject Area:
Karger e-Journal Backfile Collection 2023
, Endocrinology
, Further Areas
, Genetics
, Women's and Children's Health
Muhammad Bilal, Tobias B. Haack, Rebecca Buchert, Susana Peralta, Najum Uddin, Raja Hussain Ali, Khurram Liaqat, Wasim Ahmad
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (3): 201–207.
Published Online: 06 June 2023
... variants was carried out using whole-exome sequencing in family A and candidate gene sequencing in family B. Results: Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in MEGF8 in family A and p.(Thr89Ile) in GJA1 in family B. Conclusion: In conclusion...
