Publications:

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: TTR: 337-18G>C; rs36204272

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis.

Clinical Epigenetics

De Lillo, Antonella A; Pathak, Gita A GA; De Angelis, Flavio F; Di Girolamo, Marco M; Luigetti, Marco M; Sabatelli, Mario M; Perfetto, Federico F; Frusconi, Sabrina S; Manfellotto, Dario D; Fuciarelli, Maria M; Polimanti, Renato R

Publication Date: 2020-11-17

Variant appearance in text: rs36204272

PubMed Link: 33203445

Variant Present in the following documents:

• Main text
• 13148_2020_Article_967.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: TTR: 337-18G>C; rs36204272

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: TTR: 337-18G>C; rs36204272

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Serum and cerebrospinal fluid levels of transthyretin in Lewy body disorders with and without dementia.

Plos One

Maetzler, Walter W; Tian, Youyong Y; Baur, Stephanie Maria SM; Gauger, Tina T; Odoj, Bartholomäus B; Schmid, Benjamin B; Schulte, Claudia C; Deuschle, Christian C; Heck, Susanna S; Apel, Anja A; Melms, Arthur A; Gasser, Thomas T; Berg, Daniela D

Publication Date: 2012

Variant appearance in text: rs36204272

PubMed Link: 23133543

Variant Present in the following documents:

• Main text
• pone.0048042.pdf

View BVdb publication page

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A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.

Bmc Medical Genetics

Olsson, Malin M; Norgren, Nina N; Obayashi, Konen K; Plante-Bordeneuve, Violaine V; Suhr, Ole B OB; Cederquist, Kristina K; Jonasson, Jenni J

Publication Date: 2010-09-14

Variant appearance in text: TTR: 337-18G>C; rs36204272

PubMed Link: 20840742

Variant Present in the following documents:

• Main text
• 1471-2350-11-130.pdf

View BVdb publication page

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