Publications:

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Identification of biallelic variations of CEP70 in patients with male infertility.

Frontiers In Endocrinology

Ruan, Tiechao T; Yang, Yihong Y; Jiang, Chuan C; Shen, Gan G; Li, Dingming D; Shen, Ying Y

Publication Date: 2023

Variant appearance in text: F8: 4794G>T; E1598D; rs782798175

PubMed Link: 36967801

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: F8: 4794G>T; Glu1598Asp

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia.

The Application Of Clinical Genetics

Chuansumrit, Ampaiwan A; Sasanakul, Werasak W; Sirachainan, Nongnuch N; Santiwatana, Suttikarn S; Kadegasem, Praguywan P; Wongwerawattanakoon, Pakawan P; Tungbubpha, Noppawan N; Chantaraamporn, Juthamard J

Publication Date: 2022

Variant appearance in text: FVIII: 4794G>T

PubMed Link: 36213555

Variant Present in the following documents:

• Main text
• tacg-15-133.pdf

View BVdb publication page

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: FVIII: E1598D

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia.

Blood Research

Seo, Ja Young JY; Jang, Mi-Ae MA; Kim, Hee-Jung HJ; Lee, Ki-O KO; Kim, Sun-Hee SH; Kim, Hee-Jin HJ

Publication Date: 2013-09

Variant appearance in text: F8: 4794G>T

PubMed Link: 24086941

Variant Present in the following documents:

• Main text
• br-48-206.pdf

View BVdb publication page

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Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

Journal Of Thrombosis And Haemostasis : Jth

Ogata, K K; Selvaraj, S R SR; Miao, H Z HZ; Pipe, S W SW

Publication Date: 2011-06

Variant appearance in text: FVIII: 4794G>T

PubMed Link: 21645226

Variant Present in the following documents:

• Main text

View BVdb publication page

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