Publications:

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: CFTR: 2359A>G; Thr787Ala

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

View BVdb publication page

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: CFTR/MRP: T787A

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 10

View BVdb publication page

Role of tyrosine phosphorylation in the muscarinic activation of the cystic fibrosis transmembrane conductance regulator (CFTR).

The Journal Of Biological Chemistry

Billet, Arnaud A; Luo, Yishan Y; Balghi, Haouaria H; Hanrahan, John W JW

Publication Date: 2013-07-26

Variant appearance in text: CFTR: T787A

PubMed Link: 23760269

Variant Present in the following documents:

• Main text

View BVdb publication page