PAH c.706+77_706+135del

Variant ID: 12-103248779-AGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTT-A

NM_000277.1(PAH):c.706+77_706+135del

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.

Experimental & Molecular Medicine
Lee, Yong Wha YW; Lee, Dong Hwan DH; Kim, Nam Doo ND; Lee, Seung Tae ST; Ahn, Jee Young JY; Choi, Tae Youn TY; Lee, You Kyoung YK; Kim, Sun Hee SH; Kim, Jong Won JW; Ki, Chang Seok CS
Publication Date: 2008-10-31

Variant appearance in text: PAH: 456_706+138del
PubMed Link: 18985011
Variant Present in the following documents:
  • Main text
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