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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FRMD6

Variant:p.Y152delFs

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FRMD6

NM_001267046.2:p.Y152delFs

hg38:chr14:51704830 CT>C

Associated Papers

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

Crosnier C et al.

Gastroenterology, 1999

10220506 (PubMed )

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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."