Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.Q100_R101Splc
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SHH

NM_000193.4:p.Q100_R101Splc

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly.

Kulseth MA et al.

European Journal of Medical Genetics, 0

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