Publications:

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Richards, Sue S; Aziz, Nazneen N; Bale, Sherri S; Bick, David D; Das, Soma S; Gastier-Foster, Julie J; Grody, Wayne W WW; Hegde, Madhuri M; Lyon, Elaine E; Spector, Elaine E; Voelkerding, Karl K; Rehm, Heidi L HL; ,

Publication Date: 2015-05

Variant appearance in text: CFTR: 34G>C; Val12Leu

PubMed Link: 25741868

Variant Present in the following documents:

• Main text
• nihms697486.pdf

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