Publications:

The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: TTN: G21220R

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Bmc Medical Genetics

Khan, Amjad A; Wang, Rongrong R; Han, Shirui S; Umair, Muhammad M; Abbas, Safdar S; Khan, Muhammad Ismail MI; Alshabeeb, Mohammad A MA; Alfadhel, Majid M; Zhang, Xue X

Publication Date: 2019-10-29

Variant appearance in text: TTN: 63658G>A

PubMed Link: 31664938

Variant Present in the following documents:

• Main text
• 12881_2019_Article_895.pdf

View BVdb publication page