Publications:

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.

Jci Insight

Kolesnikova, Masha M; Oh, Jin Kyun JK; Wang, Jiali J; Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Kim, Angela H AH; Jenny, Laura A LA; Yang, Tingting T; Allikmets, Rando R; Tsang, Stephen H SH

Publication Date: 2022-12-08

Variant appearance in text: ABCA4: 6729+61G>A

PubMed Link: 36264634

Variant Present in the following documents:

• jciinsight-7-162687-s246.pdf

View BVdb publication page

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.

Jci Insight

Pfau, Maximilian M; Cukras, Catherine A CA; Huryn, Laryssa A LA; Zein, Wadih M WM; Ullah, Ehsan E; Boyle, Marisa P MP; Turriff, Amy A; Chen, Michelle A MA; Hinduja, Aarti S AS; Siebel, Hermann Ea HE; Hufnagel, Robert B RB; Jeffrey, Brett G BG; Brooks, Brian P BP

Publication Date: 2022-01-25

Variant appearance in text: ABCA4: 6729+61G>A

PubMed Link: 35076026

Variant Present in the following documents:

• jciinsight-7-155373-s142.pdf
• jciinsight-7-155373.pdf

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: rs56086814

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page